Transcriptional Enhancer Research In Gastric Cancer And Construction Of Database Of Disease-associated Enhancers

Enhancer mainly promotes gene expression that control cell pluripotency,which then regulates cell development process.Recent studies on tumorigenesis have indicated that dysfunctions of enhancers might consequently lead to carcinogenesis or cell apoptosis,by abnormally activating tumor or pluripotency-associated genes' expression.Further study of enhancer function in pathogenesis of specific disease or phenotypes will be of great significance.Based on bi-directional transcription signals defined by cap analysis of gene expression,we constructed the transcriptional enhancer profiles in two gastric cell lines.Genes targeted by active enhancers tended to have higher level of expression signal,and these genes were enriched in cancer-related pathways,indicating that enhancers play significant roles in tumorigenesis.To get a further insight into enhancer functions in pathogenesis,we have constructed eSNPdb,a database integrated enhancers identified by FANTOM5 and VISTA,SNPs from NCBI with GWAS datasets,linking diseases to enhancers.The current release contains 67268 enhancers,and of the 826350 SNPs in these enhancer regions,8521 are disease-associated.The database also contains transcription factor binding sites information in order to predict enhancer SNPs' effect on transcription factor binding affinity.The eSNPdb is now the first database collecting SNP information in enhancer regions,and will be an essential resource for the research of enhancers' roles in human diseases.