49AISNP：东亚北方三个族群遗传来源推断

doi:10.16288/j.yczz.21-073

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Hereditas(Beijing) ›› 2021, Vol. 43 ›› Issue (9): 880-889.doi: 10.16288/j.yczz.21-073

• Research Article • Previous Articles Next Articles

49AISNP: a study on the ancestry inference of the three ethnic groups in the north of East Asia

Xiaoyuan Guo^1,²(), Changchun Sun^1,², Siyao Xue^1,², Hui Zhao², Li Jiang²(), Caixia Li^1,²()

1. Shanxi Medical University, Taiyuan 030001, China
2. Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Beijing 100038, China

Received:2021-02-25 Revised:2021-05-31 Online:2021-09-20 Published:2021-07-01
Contact: Jiang Li,Li Caixia E-mail:827633812@qq.com;jl@mail.bnu.edu.cn;licaixia@tsinghua.org.cn
Supported by:
Supported by the National Natural Science Foundation of China No(81772027)

Abstract

Abstract:

The ancestry inference of unknown samples plays an important role in forensic investigations. An ideal panel is a set of few markers with high ancestry inference accuracy. We collected 428 AISNP (ancestry informative SNP) that can distinguish the three ethnic groups in north of East Asia, including northern Han, Japanese and Korean. The genotypes of 428 AISNP in 307 samples from these three ethnic groups were obtained. Based on the information of Fst value and clustering by allele frequency, the panel was further refined into 49AISNP smart panel. Inference accuracy of the 49AISNP was verified by the leave-one-out method with 307 samples, and the results showed that its accuracy was higher than 99% in the northern Han, Japanese and Korean ethnic groups. This panel can also be helpful to further distinguish the ethnic sub-groups in East Asia.

Key words: forensic genetics, AISNP, ancestry inference, Fst, ethnic groups in north of East Asia

Xiaoyuan Guo, Changchun Sun, Siyao Xue, Hui Zhao, Li Jiang, Caixia Li. 49AISNP: a study on the ancestry inference of the three ethnic groups in the north of East Asia[J]. Hereditas(Beijing), 2021, 43(9): 880-889.

Figures/Tables 16

Table 1

Table 2

Information of the 49AISNP"

序号	rs号	染色体	第37版序列位置	等位基因	Fst	序号	rs号	染色体	第37版序列位置	等位基因	Fst
1	rs10088365	8	10097398	G/A	0.2709	26	rs2622637	8	106505971	G/A/T	0.0951
2	rs10489744	1	165380623	G/A	0.0690	27	rs2642066	17	65639014	G/T	0.0910
3	rs10521076	9	108878562	C/T	0.0775	28	rs2838408	21	45246422	A/G	0.0750
4	rs10894724	11	133547942	T/A/G	0.0812	29	rs2976396	8	143764001	G/A	0.1521
5	rs10973829	9	38446392	C/T	0.0781	30	rs3111745	3	21827159	G/T	0.0751
6	rs11034709	11	38428289	A/G	0.1083	31	rs3217805	12	4388084	C/A/G/T	0.0844
7	rs11841589	13	73814891	G/T	0.0862	32	rs374722	2	147839830	G/A	0.0740
8	rs11846710	14	58343352	G/A	0.0768	33	rs3923736	7	155060730	A/C/G/T	0.0714
9	rs11959012	5	167668843	C/T	0.0694	34	rs4353835	3	32446775	C/T	0.0849
10	rs12006467	9	35090720	T/C	0.0993	35	rs4372441	11	7657259	C/T	0.0787
11	rs12039715	1	242801261	G/C	0.1726	36	rs4718412	7	66286867	T/C	0.0751
12	rs12483769	22	47790072	T/C	0.0870	37	rs5022079	18	76478188	A/G	0.0931
13	rs1256519	14	65736324	G/A	0.1027	38	rs6123723	20	37082145	C/T	0.0891
14	rs1322944	13	53683163	A/G	0.0740	39	rs6436971	2	231582797	T/C	0.0815
15	rs1333099	13	73691236	G/A	0.0715	40	rs6576127	14	106194763	C/T	0.1076
16	rs1678537	12	57900341	G/A	0.0885	41	rs7655849	4	161867415	T/A	0.0759
17	rs17121800	10	108710873	C/T	0.1007	42	rs928844	21	37999799	C/T	0.0846
18	rs17207681	5	138168527	A/G	0.0823	43	rs929115	1	171591189	T/G	0.0757
19	rs17451739	5	144030993	C/T	0.0732	44	rs9321180	6	130102959	C/T	0.0866
20	rs174520	14	88006776	T/G	0.0899	45	rs9549212	13	41022093	C/T	0.0708
21	rs17599827	5	89518433	A/C	0.0810	46	rs9896443	17	47125982	T/C	0.0738
22	rs17631488	5	18777746	A/G	0.1030	47	rs2770310	6	70165296	C/A/T	0.0924
23	rs1981370	18	74070815	A/G	0.0722	48	rs3027238	17	8135061	T/C	0.9803
24	rs2269275	5	83261405	A/G	0.0688	49	rs4578397	11	131832284	G/T	0.0737
25	rs229562	22	37599065	G/T	0.0827

Table 2

Fig. 1

Table 3

Fig. 2

Fig. 3

Table 4

Table 5

Table 6

Fig. 4

Supplementary Table 1

Information of the 428AISNP"

序号	rs号	染色体	第37版序列位置	等位基因	Fst值	序号	rs号	染色体	第37版序列位置	等位基因	Fst值
1	rs10018432	4	189437086	C/A	0.0460	40	rs10957985	8	81789921	G/A	0.0645
2	rs10058739	5	144074365	G/A	0.0297	41	rs10972006	9	3430684	T/C	0.0266
3	rs10088365	8	10097398	G/A	0.2709	42	rs10973829	9	38446392	C/T	0.0781
4	rs1009544	22	42239348	G/C	0.0430	43	rs10991718	9	93716118	T/C	0.0048
5	rs10107492	8	80568935	T/A/C	0.0503	44	rs11012716	10	21762267	A/G	0.0302
6	rs10110194	8	119479124	G/C/T	0.0585	45	rs11023463	11	15209506	A/C	0.0052
7	rs10132336	14	74869017	A/G	0.0327	46	rs11032331	11	33678161	G/T	0.0519
8	rs10132483	14	102299420	T/C	0.0519	47	rs11034709	11	38428289	A/G	0.1083
9	rs10134903	14	95229777	G/A	0.0360	48	rs11042911	11	10678785	T/C	0.0432
10	rs10139575	14	57087118	A/C/G	0.0342	49	rs11058961	12	127544998	G/A	0.0438
11	rs10166397	2	44372909	G/T	0.0490	50	rs11086012	19	16032643	A/C	0.0537
12	rs10171891	2	195971878	C/T	0.0431	51	rs11104947	12	88942980	G/A	0.0782
13	rs10177273	2	122239287	C/G	0.0782	52	rs1111212	2	159312733	C/G/T	-0.0007
14	rs1026975	4	113971374	T/G	0.0229	53	rs11128125	3	69389614	T/A/C/G	0.0035
15	rs10277413	7	55238464	T/A/G	0.0294	54	rs11133144	4	177229719	A/C/T	0.0446
16	rs10431079	11	116440678	A/G	0.0728	55	rs11151527	18	67347133	A/G	0.0506
17	rs10459664	15	35064934	C/T	0.0505	56	rs11159882	14	89525994	G/T	0.0479
18	rs10483991	14	88682616	G/A	0.0607	57	rs11161614	1	85898160	T/G	0.0299
19	rs10486260	7	8859616	C/T	0.0210	58	rs11164354	1	102439329	G/A	0.0436
20	rs10489744	1	165380623	G/A	0.0690	59	rs11174261	12	62362843	C/T	0.0473
21	rs10506294	12	51070554	T/C	0.0019	60	rs11177698	12	69906287	A/G	0.0534
22	rs10506725	12	77449514	T/C	0.0444	61	rs11222851	11	131831335	G/A	0.0683
23	rs10521076	9	108878562	C/T	0.0775	62	rs11223550	11	133532372	A/G	0.0527
24	rs10756234	9	11316481	C/T	-0.0004	63	rs11224765	11	101310590	C/T	0.0981
25	rs10768017	11	33681025	G/T	0.0571	64	rs11257349	10	6260717	T/G	0.0065
26	rs10771923	12	32320912	C/T	0.0332	65	rs1125832	16	52421140	T/A	0.0337
27	rs10778125	12	101962634	C/A	0.0513	66	rs11466640	4	38778903	G/A/T	0.0090
28	rs10806975	6	23766367	A/G/T	0.0372	67	rs11611033	12	63771136	C/T	0.0488
29	rs10819066	9	101356091	C/G	0.0262	68	rs11621121	14	65822493	C/T	0.0990
30	rs10833071	11	19209050	T/C	0.0328	69	rs11625485	14	80242132	T/C	0.0538
31	rs10836092	11	33676946	G/A/C	0.0515	70	rs11625876	14	35248467	C/T	0.0559
32	rs10836093	11	33678526	A/G	0.0530	71	rs11680024	2	49535856	A/C	-0.0040
33	rs10847616	12	128910954	A/C/T	0.0308	72	rs1178148	7	18778113	A/C	0.0795
34	rs10849181	12	638166	C/T	0.0525	73	rs11841589	13	73814891	G/T	0.0862
35	rs10858883	12	89893348	T/C	-0.0004	74	rs11846710	14	58343352	G/A	0.0768
36	rs10883736	10	104320029	G/T	0.0365	75	rs11847263	14	65775695	T/A/G	0.0635
37	rs10890510	1	48334490	A/C	0.0495	76	rs11874960	18	1948608	A/C/G/T	0.0049
38	rs10894034	11	129255618	C/T	0.0521	77	rs11959012	5	167668843	C/T	0.0694
39	rs10894724	11	133547942	T/A/G	0.0812	78	rs12006467	9	35090720	T/C	0.0993
79	rs12039715	1	242801261	G/C	0.1726	119	rs1391099	4	143373910	A/G/T	0.0025
80	rs12045644	1	40084488	G/T	0.0393	120	rs1420288	16	54477881	T/C	0.0519
81	rs12095503	1	171653329	C/T	0.0346	121	rs1420528	16	52417241	C/G	0.0374
82	rs12134013	1	164459913	C/T	0.0586	122	rs1420638	3	181497374	G/A	0.0407
83	rs12141436	1	68463212	G/A	0.0418	123	rs1422931	5	167397540	C/T	0.0462
84	rs12151767	2	198274929	G/A	0.0548	124	rs1428150	5	132490807	A/G	0.0666
85	rs12231617	12	124930127	C/G	0.0458	125	rs1442502	1	166548317	G/A	0.0277
86	rs12351269	9	16806521	T/C	0.0558	126	rs1453054	2	181359907	T/C/G	0.0119
87	rs12459941	19	10666112	G/A	0.0631	127	rs1465306	7	66699784	T/C	0.0672
88	rs12483769	22	47790072	T/C	0.0870	128	rs1465759	2	142576915	T/C	0.0365
89	rs12488690	3	150490463	G/A	0.0502	129	rs1488485	3	7951364	T/C	0.0125
90	rs12522710	5	65051804	G/A	0.0125	130	rs1522340	3	70369504	G/A	0.0320
91	rs1256519	14	65736324	G/A	0.1027	131	rs1524930	21	40968460	A/G	0.0649
92	rs1256520	14	65737193	C/A	0.0958	132	rs1537523	9	3649097	A/C	0.0512
93	rs12567990	1	207681685	C/T	-0.0038	133	rs1538374	10	72718336	G/A	0.0663
94	rs12571942	10	127954919	G/A	0.0056	134	rs1551653	8	34324240	A/G	0.0084
95	rs12586912	14	34023334	G/T	0.0422	135	rs155872	3	1454063	C/T	0.0227
96	rs12588061	14	50481926	T/C	0.0703	136	rs1561201	18	38205375	G/A	0.0330
97	rs12589835	14	30848932	C/T	0.0615	137	rs1566857	4	46048880	A/T	0.0468
98	rs12598852	16	13329469	G/A	0.0500	138	rs160539	16	63353953	C/G	0.0641
99	rs12630087	3	80935171	T/C	0.0429	139	rs1609763	5	142018424	T/G	0.0232
100	rs12632233	3	94033744	G/T	0.0334	140	rs1613215	3	77738317	T/C	0.0509
101	rs12676684	8	118857704	G/C/T	0.0584	141	rs1652519	15	58612113	G/A/C	0.0219
102	rs12691557	2	141469911	G/A/T	0.0461	142	rs1678537	12	57900341	G/A	0.0885
103	rs12768145	10	17610277	G/A	0.0532	143	rs16834705	2	193385209	A/G	0.0168
104	rs12776442	10	59297413	A/G	0.0075	144	rs16850913	2	166421763	A/G	0.0450
105	rs1284605	12	57921188	C/T	0.0863	145	rs16862627	3	150114701	G/A	-0.0022
106	rs13076655	3	80920612	C/T	0.0412	146	rs16893074	5	24074021	T/A	0.0042
107	rs13094402	3	80710455	A/G	0.0467	147	rs16895073	5	65596821	T/C	0.0302
108	rs13160399	5	165711426	G/A	0.0550	148	rs16944149	17	10938783	T/G	0.0223
109	rs1317548	10	12245520	G/A	0.0575	149	rs16951472	13	97073977	C/T	0.0503
110	rs131864	22	47271217	T/G	0.0450	150	rs16986850	20	41048928	T/C	0.0307
111	rs1322944	13	53683163	A/G	0.0740	151	rs16991180	20	10148468	G/A	0.0655
112	rs13249584	8	9710943	A/G	0.0786	152	rs16997770	4	124693346	T/C	0.0611
113	rs1325192	1	199244248	G/C/T	0.0625	153	rs17002737	22	42282012	C/T	0.0454
114	rs1333099	13	73691236	G/A	0.0715	154	rs17016175	4	143391299	A/G	0.0018
115	rs13419695	2	7347211	A/T	0.0808	155	rs17029405	3	32451697	C/A	0.0508
116	rs1362553	16	52438954	C/G	0.0329	156	rs17034099	3	11220006	C/A	0.0412
117	rs1371566	2	119738187	T/G	0.0337	157	rs17072984	18	62051788	G/A	0.0312
118	rs1378365	4	61775645	G/A	0.0587	158	rs17076328	5	173143508	G/A	0.0164
159	rs17121800	10	108710873	C/T	0.1007	199	rs2175743	1	70295901	C/T	0.0413
160	rs17129041	1	66996037	T/C	0.0529	200	rs2194757	2	21706029	G/A	0.0108
161	rs17207681	5	138168527	A/G	0.0823	201	rs2195856	1	187922876	A/C	0.0548
162	rs17239258	4	183263055	A/G	0.0500	202	rs2253974	21	23231832	C/T	0.0187
163	rs17372695	4	155060317	A/G	-0.0030	203	rs2255957	22	42241372	G/A/T	0.0440
164	rs17377643	22	42152988	A/C	0.0565	204	rs2269275	5	83261405	A/G	0.0688
165	rs17451739	5	144030993	C/T	0.0732	205	rs2269658	22	42280618	T/C	0.0375
166	rs174520	14	88006776	T/G	0.0899	206	rs2278339	18	50866195	T/G	0.0298
167	rs174534	11	61549458	A/G	-0.0023	207	rs229562	22	37599065	G/T	0.0827
168	rs174583	11	61609750	C/T	-0.0046	208	rs2295756	11	35241229	T/C	0.0000
169	rs17469810	3	80807568	G/A	0.0390	209	rs2313427	16	8815000	G/A	0.0470
170	rs17582830	4	38867427	A/G	0.0004	210	rs2330015	22	22536956	C/T	0.0678
171	rs17583068	4	38908616	G/C/T	0.0558	211	rs2333656	17	58184540	T/C	0.0576
172	rs17599827	5	89518433	A/C	0.0810	212	rs2349093	12	128520953	T/A	0.0004
173	rs17631488	5	18777746	A/G	0.1030	213	rs2352181	10	87653766	G/A	0.0257
174	rs17717717	3	71404405	G/A	0.0320	214	rs2353686	16	86354605	T/C	0.0566
175	rs17766621	14	71262932	T/C	0.0349	215	rs2377962	18	9101722	G/T	0.0522
176	rs17823795	14	63384260	G/A	0.0411	216	rs2430184	1	187786661	G/T	0.0482
177	rs1794072	11	61303803	C/T	0.0446	217	rs2526371	17	56443545	G/A	0.0501
178	rs1795704	12	58739693	C/A	0.0502	218	rs2547353	19	58582797	G/C/T	0.0666
179	rs1835298	11	112057620	G/A	0.0428	219	rs255630	5	127677188	T/C	0.0133
180	rs1841305	18	50163950	A/T	0.0556	220	rs258728	7	81663275	C/A	0.0337
181	rs1861693	12	107603157	C/T	0.0471	221	rs2587694	2	120213497	A/G	0.0026
182	rs1864307	18	57332158	T/G	0.0440	222	rs2589787	5	38260303	G/A	0.0374
183	rs1875174	10	2971488	C/G/T	0.0806	223	rs2622637	8	106505971	G/A/T	0.0951
184	rs1877696	8	9712822	C/G/T	0.0956	224	rs2642066	17	65639014	G/T	0.0910
185	rs189062	2	137349278	G/A	0.0429	225	rs2645645	4	77859067	A/G/T	0.0469
186	rs1898227	16	63282080	A/G/T	0.0546	226	rs26461	5	11202649	C/T	0.0211
187	rs1901786	3	130021945	G/A	0.0411	227	rs27061	5	1362793	T/C	0.0761
188	rs1944975	18	57276748	T/C	0.0369	228	rs2770310	6	70165296	C/A/T	0.0924
189	rs1981370	18	74070815	A/G	0.0722	229	rs2793438	6	24461427	G/C	0.0382
190	rs198464	11	61521621	G/A	-0.0050	230	rs2836749	21	40287238	A/C/T	0.0548
191	rs2008819	7	39662268	C/T	0.0459	231	rs2837352	21	41363778	C/T	0.0312
192	rs2011071	5	88741077	A/G	0.0583	232	rs2838408	21	45246422	A/G	0.0750
193	rs2035023	4	137753683	T/C	0.0549	233	rs2853668	5	1300025	G/T	0.0580
194	rs2047297	4	121511851	G/C/T	0.0271	234	rs2901142	2	124764392	C/T	0.0727
195	rs2068746	17	11389480	T/C	0.0464	235	rs2945733	8	134615750	T/G	0.0602
196	rs2099563	3	80740366	G/A	0.0447	236	rs2972336	5	76504150	G/C	-0.0028
197	rs2160913	18	8716090	A/C/G	0.0216	237	rs2976396	8	143764001	G/A	0.1521
198	rs2174739	6	79659170	A/G	0.0042	238	rs3027238	17	8135061	T/C	0.9803
239	rs3104517	15	27940339	A/G	0.0288	279	rs4690508	4	178295766	G/T	0.0504
240	rs3111745	3	21827159	G/T	0.0751	280	rs4718412	7	66286867	T/C	0.0751
241	rs315808	5	169750158	G/T	0.0626	281	rs475235	18	10029988	G/A/T	0.0289
242	rs3217805	12	4388084	C/A/G/T	0.0844	282	rs4756305	11	36292065	T/A/C	0.0532
243	rs321967	7	78314549	G/A/C	0.0454	283	rs4790409	17	1243941	C/T	0.0600
244	rs34052939	3	80765431	C/G/T	0.0447	284	rs480631	6	138406328	C/A/T	0.0620
245	rs34254286	4	164411734	A/G	0	285	rs4820428	22	41537589	A/G	0.0762
246	rs374722	2	147839830	G/A	0.0740	286	rs4834226	4	128986874	C/T	-0.0008
247	rs3757419	7	66029429	C/T	0.0718	287	rs4839523	1	116800016	T/C	0.0284
248	rs3757425	7	150067640	A/C	0.0706	288	rs4846992	1	230137518	A/G	0.0426
249	rs3758229	9	95078852	C/A/G	0.0574	289	rs4865142	4	57549583	C/T	0.0372
250	rs3775539	4	99304600	A/G	0.0452	290	rs4865290	4	53278689	G/A	0.0307
251	rs3910142	20	12921966	T/C	0.0613	291	rs4883926	13	73843655	T/C	0.0583
252	rs3923084	2	227948726	A/G/T	0.0586	292	rs4902391	14	65815979	G/T	0.0929
253	rs3923736	7	155060730	A/C/G/T	0.0714	293	rs4903754	14	40865770	G/A	0.0492
254	rs3924308	9	130185385	C/A	0.0129	294	rs4912933	5	143038150	G/A/C/T	-0.0034
255	rs4133446	5	86155113	T/C	0.0645	295	rs4918000	10	94837743	C/T	0.0399
256	rs4144800	4	38006916	G/A	0.0228	296	rs4922234	8	16639271	G/A/C/T	0.0433
257	rs4254643	3	792207	G/A	0.0307	297	rs4938285	11	116440011	T/C	0.0697
258	rs4263026	18	73309989	G/C	0.0466	298	rs5022079	18	76478188	A/G	0.0931
259	rs4280278	16	29439227	C/G	0.0841	299	rs5030883	10	70480868	A/C/T	0.0759
260	rs4325622	17	28526475	T/C	0.3617	300	rs520605	1	184795779	C/T	0.0581
261	rs4328700	20	23709545	A/G	0.0344	301	rs536430	10	79001643	C/T	0.0107
262	rs4353835	3	32446775	C/T	0.0849	302	rs5770018	22	49595560	C/T	0.0411
263	rs4355871	9	29653331	G/A/C	0.0665	303	rs5996064	22	42172080	C/T	0.0476
264	rs4372441	11	7657259	C/T	0.0787	304	rs6000401	22	37149336	C/T	0.0426
265	rs4393669	18	67296561	T/C	0.0330	305	rs6007756	22	48282309	G/A/C	0.0571
266	rs4414069	1	200391561	T/C	0.0478	306	rs6016226	20	38661387	C/T	0.0181
267	rs4466495	9	17496114	C/A/T	0.0489	307	rs6030932	20	42146320	T/G	0.0659
268	rs4486887	16	50677571	C/T	0.0579	308	rs6031579	20	43015108	C/G	0.0654
269	rs4491175	11	90956214	T/C	0.0485	309	rs6049064	20	23727145	C/T	0.0360
270	rs4533076	12	56069231	C/A	0.0410	310	rs6074520	20	12905188	T/A/C	0.0559
271	rs4543050	3	74954560	A/C/T	0.0194	311	rs6117562	20	753310	G/A	-0.0011
272	rs4578397	11	131832284	G/T	0.0737	312	rs6123723	20	37082145	C/T	0.0891
273	rs4603782	2	102735809	T/A	0.0642	313	rs6137010	20	2090118	C/T	0.0110
274	rs4668680	2	10529961	A/G	0.0199	314	rs6138046	20	23704388	G/C/T	0.0342
275	rs4674759	2	224068666	G/A	0.0059	315	rs616022	3	80711349	G/C/T	0.0253
276	rs4677399	3	74519384	T/C	0.0307	316	rs6436971	2	231582797	T/C	0.0815
277	rs4678169	3	124543103	C/A	0.0557	317	rs6450876	5	31925423	A/G	-0.0024
278	rs4681869	3	58573534	C/T	0.0583	318	rs6465469	7	95179593	G/A	0.0611
319	rs6478966	9	101776125	G/A	0.0192	359	rs760873	20	45393072	T/G	0.0582
320	rs6502840	17	4989857	C/T	0.0515	360	rs7630111	3	114165901	C/A	0.0499
321	rs6549596	3	74507710	T/C	0.0271	361	rs7642488	3	84688723	C/T	0.0406
322	rs6549601	3	74525187	C/T	0.0307	362	rs7655849	4	161867415	T/A	0.0759
323	rs6559935	9	89140339	G/A	0.0425	363	rs7666030	4	24728480	G/A	0.0492
324	rs6561294	13	46695350	T/C	0.0215	364	rs7674135	4	84577025	T/C	0.0399
325	rs6576127	14	106194763	C/T	0.1076	365	rs769411	2	171693639	C/G/T	0.0537
326	rs6589072	11	109322914	C/G	0.0501	366	rs7698051	4	60278484	A/G	0.0445
327	rs6599390	4	956047	A/G	0.0584	367	rs770576	11	99884272	A/G	0.0565
328	rs6707773	2	191344132	C/T	0.0279	368	rs7802058	7	81697666	A/C	0.0512
329	rs6717406	2	187743228	T/G	0.0326	369	rs7845383	8	88289450	G/T	0.0361
330	rs6738590	2	65059603	A/G	0.0429	370	rs789378	3	154079645	C/T	0.0205
331	rs6743998	2	196676489	T/A/C/G	0.0612	371	rs8014475	14	65811537	T/C	0.0937
332	rs6760967	2	4669324	C/T	0.0400	372	rs8015594	14	40942142	C/G	0.0688
333	rs6767410	3	80699208	C/T	0.0505	373	rs8049660	16	89857700	A/G	0.0398
334	rs6768622	3	74508075	C/T	0.0271	374	rs8050932	16	50687673	C/T	0.0545
335	rs6833150	4	61659236	A/G	0.0235	375	rs8060207	16	82273372	G/A	0.0287
336	rs6898653	5	115975656	A/G	0.0654	376	rs807959	19	22115835	A/G	0.0561
337	rs6924957	6	96853579	G/T	0.0527	377	rs8084884	18	75513922	A/T	0.0597
338	rs6955018	7	125115418	A/G	0.0474	378	rs8107011	19	30841000	A/C	0.0341
339	rs7006443	8	9290753	T/C	0.0383	379	rs827287	10	72708276	A/T	0.0435
340	rs7022178	9	29780195	G/A	0.0720	380	rs883433	19	39206288	C/T	0.0580
341	rs7032231	9	117025771	C/A	0.0706	381	rs928844	21	37999799	C/T	0.0846
342	rs7038964	9	104423907	C/T	0.0419	382	rs929115	1	171591189	T/G	0.0757
343	rs7097617	10	77504287	A/G	0.0447	383	rs9302550	16	52405521	C/T	0.0374
344	rs7117447	11	101351383	G/A	0.1118	384	rs9303660	17	31420730	C/T	0.0614
345	rs712645	5	110585627	C/T	0.0604	385	rs9321180	6	130102959	C/T	0.0866
346	rs713278	11	133563491	G/A	0.0619	386	rs933199	6	26112893	T/C	0.0107
347	rs7173716	15	70123826	T/G	0.0723	387	rs9384981	6	116803328	T/C	0.0259
348	rs7173982	15	36685718	C/A/T	-0.0013	388	rs9398434	6	116787017	T/G	0.0229
349	rs7193505	16	52401477	C/G	0.0394	389	rs943327	9	113599422	T/C	0.0695
350	rs7195477	16	29288634	T/C	0.0020	390	rs9532080	13	38126537	G/A	0.0395
351	rs7211426	17	53654548	G/A/C	0.0037	391	rs9549212	13	41022093	C/T	0.0708
352	rs7268940	20	9961532	C/T	0.0461	392	rs9590216	13	95905305	T/C	-0.0035
353	rs7271913	20	39263421	C/A	0.0155	393	rs9663367	10	19776910	A/C/T	0.0370
354	rs7317643	13	108536028	C/T	0.1665	394	rs978605	10	94903693	A/G	0.0208
355	rs738745	22	48246398	A/G	0.0255	395	rs9825713	3	100936248	C/A	0.0450
356	rs741245	12	4227248	G/A	0.0535	396	rs9826148	3	114464858	C/A/T	0.0677
357	rs7555405	1	31183486	C/T	0.0420	397	rs9852677	3	50291617	G/A/T	0.0412
358	rs758219	19	40294953	T/C	0.0461	398	rs9857773	3	149344615	C/A	0.0547
399	rs9860483	3	138730737	C/T	0.0985	414	rs1991955	6	29884066	A/C	0.0938
400	rs9896443	17	47125982	T/C	0.0738	415	rs2182268	13	113170683	G/A	0.0573
401	rs9941426	18	487281	T/G	0.0689	416	rs2261033	6	31603591	A/G	0.1538
402	rs9947737	18	455128	A/G	0.0477	417	rs2524095	6	31266117	A/C	0.0456
403	rs9979724	21	22447717	A/G	0.0383	418	rs284784	4	100335874	C/A	0.0255
404	rs10901244	9	136079463	C/T	0.0077	419	rs3015224	9	72728388	A/G	0.1419
405	rs11078951	17	38831415	T/A/G	0.1249	420	rs3130688	6	31210216	C/A/T	0.0991
406	rs11673276	19	55347963	C/T	0.0264	421	rs3135402	6	33024654	A/C	0.1028
407	rs12896399	14	92773663	G/T	0.0615	422	rs376877	6	33024606	C/G	0.0902
408	rs1414241	9	21744392	G/A/T	0.0756	423	rs4800105	18	19651982	C/G/T	0.0906
409	rs1431403	6	33047031	T/C	-0.0048	424	rs5758649	22	42605548	C/T	0.0059
410	rs1496279	5	18680420	A/T	-	425	rs6062275	20	61146909	C/G/T	0.1420
411	rs1500127	5	165739982	C/T	0.0416	426	rs7207346	17	75668619	C/A/G/T	0.0105
412	rs174592	11	61618608	A/G	-0.0049	427	rs8074124	17	36531565	C/T	0.0457
413	rs1927568	13	99740117	T/C	0.0137	428	rs901134	3	84688173	G/A	0.0574

Supplementary Table 1

Supplementary Table 2

r2 of AISNP between paired LD"

Block	rs号-1	rs号-2	r²值	Block	rs号-1	rs号-2	r²值
Block1	rs2853668	rs27061	0.243		rs5996064	rs2255957	0.869
Block2	rs13249584	rs1877696	0.885		rs5996064	rs2269658	0.695
Block3	rs6074520	rs3910142	0.771		rs5996064	rs17002737	0.574
Block4	rs6138046	rs4328700	1		rs1009544	rs2255957	0.991
	rs6138046	rs6049064	0.993		rs1009544	rs2269658	0.795
	rs4328700	rs6049064	0.993		rs1009544	rs17002737	0.679
Block5	rs4355871	rs7022178	0.221		rs2255957	rs2269658	0.802
Block6	rs10836092	rs11032331	0.98		rs2255957	rs17002737	0.686
	rs10836092	rs10836093	0.987		rs2269658	rs17002737	0.816
	rs10836092	rs10768017	0.906	Block10	rs4486887	rs8050932	0.371
	rs11032331	rs10836093	0.981	Block11	rs7193505	rs9302550	0.959
	rs11032331	rs10768017	0.899		rs7193505	rs1420528	0.959
	rs10836093	rs10768017	0.919		rs7193505	rs1125832	0.93
Block7	rs11466640	rs17582830	0.449		rs7193505	rs1362553	0.911
Block8	rs4903754	rs8015594	0.285		rs9302550	rs1420528	1
Block9	rs17377643	rs5996064	0.849		rs9302550	rs1125832	0.95
	rs17377643	rs1009544	0.735		rs9302550	rs1362553	0.912
	rs17377643	rs2255957	0.742		rs1420528	rs1125832	0.95
	rs17377643	rs2269658	0.62		rs1420528	rs1362553	0.912
	rs17377643	rs17002737	0.66		rs1125832	rs1362553	0.961
	rs5996064	rs1009544	0.861	Block12	rs1678537	rs1284605	0.965
Block13	rs198464	rs174534	0.388		rs6767410	rs34052939	0.96
Block14	rs6833150	rs1378365	0.278		rs6767410	rs17469810	0.944
Block15	rs1898227	rs160539	0.326		rs6767410	rs13076655	0.898
Block16	rs1256519	rs1256520	0.898		rs6767410	rs12630087	0.905
	rs1256519	rs11847263	0.565		rs13094402	rs616022	0.468
	rs1256519	rs8014475	0.61		rs13094402	rs2099563	0.992
	rs1256519	rs4902391	0.61		rs13094402	rs34052939	0.992
	rs1256519	rs11621121	0.606		rs13094402	rs17469810	0.976
	rs1256520	rs11847263	0.528		rs13094402	rs13076655	0.929
	rs1256520	rs8014475	0.596		rs13094402	rs12630087	0.937
	rs1256520	rs4902391	0.575		rs616022	rs2099563	0.472
	rs1256520	rs11621121	0.572		rs616022	rs34052939	0.472
	rs11847263	rs8014475	0.814		rs616022	rs17469810	0.466
	rs11847263	rs4902391	0.791		rs616022	rs13076655	0.468
	rs11847263	rs11621121	0.791		rs616022	rs12630087	0.476
	rs8014475	rs4902391	0.95		rs2099563	rs34052939	1
	rs8014475	rs11621121	0.925		rs2099563	rs17469810	0.984
	rs4902391	rs11621121	0.975		rs2099563	rs13076655	0.937
Block17	rs3757419	rs4718412	0.312		rs2099563	rs12630087	0.944
Block18	rs827287	rs1538374	0.258		rs34052939	rs17469810	0.984
Block19	rs6549596	rs6768622	1		rs34052939	rs13076655	0.937
	rs6549596	rs4677399	0.923		rs34052939	rs12630087	0.944
	rs6549596	rs6549601	0.975		rs17469810	rs13076655	0.921
	rs6768622	rs4677399	0.923		rs17469810	rs12630087	0.929
	rs6768622	rs6549601	0.975		rs13076655	rs12630087	0.992
	rs4677399	rs6549601	0.916	Block21	rs11224765	rs7117447	0.442
Block20	rs6767410	rs13094402	0.952	Block22	rs4938285	rs10431079	0.876
	rs6767410	rs616022	0.468	Block23	rs9398434	rs9384981	0.949
	rs6767410	rs2099563	0.96	Block24	rs1391099	rs17016175	0.593

Supplementary Table 2

Supplementary Fig. 1

Supplementary Fig. 2

Supplementary Fig. 3

Supplementary Fig. 4

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族群简称	族群信息	样本量	样本来源
CHB	中国北京的汉族人	103	千人基因组计划
JPT	东京的日本人	104	千人基因组计划
KOR	朝鲜人	100	亚洲多样性计划
CHB-C	中国北方汉族人	10	人类基因组多样性计划
JPT-C	日本人	28	人类基因组多样性计划、西蒙斯基因组多样性计划

族群	北方汉族	日本	韩国	总计
北方汉族	103(0)			103
日本	1(0)	103(0)		104
韩国			100(0)	100

样本来源	样本编号	族群	群体匹配概率	似然比	祖先成分
日本	NA18976	北方汉族	1.96E-15		0.75
		日本	8.10E-17	2.43E+01	0.16
		韩国	1.83E-19	1.07E+04	0.09

族群	北方汉族	日本	韩国	总计
北方汉族	9(1)		1(1)	10
日本	2(2)	24(1)	2(0)	28

49AISNP: a study on the ancestry inference of the three ethnic groups in the north of East Asia

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