Enhancers in embryonic stem cells are enriched for transposable elements and genetic variations associated with cancers
作者： Li Teng , Hiram A. Firpi , Kai Tan
DOI: 10.1093/NAR/GKR476
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摘要: Using an enhancer-associated epigenetic signature, we made genome-wide predictions of transcriptional enhancers in human B and T lymphocytes embryonic stem cells (ES cells). We validated characterized the predicted using four types information, including overlap with other genomic marks for enhancers; association cell-type-specific genes; enrichment transcription factor binding sites; genetic polymorphisms enhancers. find that from ES cells, but not or are significantly enriched DNA sequences derived transposable elements. This may be due to generally relaxed repressive state increased activity elements cells. demonstrate wealth new enhancer discerned here provides invaluable resource functional annotation gene-distal single nucleotide identified through expression quantitative trait loci studies analyses. Notably, GWAS SNPs associated various cancers cell In comparison, diseases immune dysregulation
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