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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 control the transcription of pluripotency-related genes and play an important role in cell differentiation. Thousands of GWAS findings indicate that a number of disease-related SNPs are located in enhancer regions and recent studies have found that SNPs cause susceptibility to disease by affecting the function of enhancers, making it necessary to perform SNPs in enhancer regions Integration and analysis. We have established the e SNPdb database, which collects enhancer annotations, SNPs and related GWAS data, linking the disease to enhancers. The database collected 67,268 enhancers, with 826,350 SNPs in these regions, of which 8,521 were disease-related. The database also collects transcription factor binding site information located in the enhancer region in order to predict the effect of SNPs on the binding affinity of enhancer region transcription factors. As the only database that currently collects SNP information in enhancer regions, e SNPdb will be an important data resource for investigating the role and mechanism of enhancers in human disease.