超级增强子是具有转录活性增强子的一个大簇，驱动控制细胞身份基因的表达，在发育和肿瘤等疾病发生过程中起到重要作用。和普通增强子相比，许多肿瘤细胞关键致癌基因是由超级增强子驱动，常见疾病如阿尔茨海默病等相关的变异显著富集于超级增强子。超级增强子在关键致癌基因的鉴定、疾病关联变异位点的发现等领域显示了巨大的应用潜力。本文首先概述了如何在全基因组水平进行增强子的鉴定，随后引入超级增强子的概念和鉴定方法，最后阐述了超级增强子的主要结构和功能特征，并对其在研究中的应用做了展望。

Super-enhancers (SEs) are large clusters of transcriptional enhancers that drive expression of genes controlling cell identity. They play important roles in development, disease initiation and progression such as tumorigenesis. Compared to typical enhancers (TEs), most key oncogenes in tumor cells are driven by SEs, and common diseases such as Alzheimer’s disease related variations are enriched in SEs. SEs hold great promising in key oncogenes identification and diseases-associated variants discovery. In this review, we first summarize how to identify enhancers on a genome-wide scale, and then introduce the concept of SEs and the methodology for SEs identification. Lastly, we describe SEs’ main structural and functional properties and discuss its application in the future research.