eSNPdb，人类增强子区域单核酸多态性数据库

eSNPdb,a Database of SNPs in Human Enhancer Regions

增强子控制着多能性相关基因的转录,在细胞分化中起重要作用。数以千计的GWAS研究结果表明,一定数量疾病相关的SNP位于增强子区域,且近来的研究发现SNP通过影响增强子的功能引起对疾病的易感性,因此有必要对增强子区域的SNP进行整合和分析。我们建立了e SNPdb数据库,收集了增强子注释、SNP以及相关GWAS数据,将疾病与增强子建立联系。数据库收集了67 268个增强子,在这些区域上有826 350个SNP,其中8 521个与疾病相关。数据库还收集了位于增强子区域的转录因子结合位点信息,以便预测SNP对增强子区域转录因子的结合亲和性的影响。作为目前唯一收集增强子区域SNP信息的数据库,e SNPdb将会是研究增强子在人类疾病中的作用与机制重要的数据资源。

Enhancers played significant roles in cell differentiation through regulating the transcription of pluripotency-associated genes. Results of thousands of GWAS indicated that numbers of disease-associated SNPs were located in enhancer regions. Recent studies have demonstrated that SNPs in enhancer regions might lead susceptibilities to disease through affecting enhancer activities. Therefore, there was an essential need to record and analyze SNPs in enhancer regions. We have constructed eSNPdb, a database integrating enhancer annotations, SNPs and related GWAS datasets, and linked diseases to enhancers. The database contained 67 268 enhancers in which regions 826 350 SNPs were located, and 8 521 of the SNPs are disease-associated. The current release also contained transcription factor binding site information, which helped to predict SNPs＇ effect on transcription factor binding affinities in enhancer regions. As the only database that collecting information about SNPs in enhancer regions, eSNPdb would be a significant data resource for the investigation of enhancer＇s function and mechanism in human disease.