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• W2892479680 abstract "Recent studies have shown that disease-susceptibility variants frequently lie in cell-type-specific enhancer elements. To identify, interpret, and prioritize such risk variants, we must identify the enhancers active in disease-relevant cell types, their upstream transcription factor (TF) binding, and their downstream target genes. To address this need, we built HACER (http://bioinfo.vanderbilt.edu/AE/HACER/), an atlas of Human ACtive Enhancers to interpret Regulatory variants. The HACER atlas catalogues and annotates in-vivo transcribed cell-type-specific enhancers, as well as placing enhancers within transcriptional regulatory networks by integrating ENCODE TF ChIP-Seq and predicted/validated chromatin interaction data. We demonstrate the utility of HACER in (i) offering a mechanistic hypothesis to explain the association of SNP rs614367 with ER-positive breast cancer risk, (ii) exploring tumor-specific enhancers in selective MYC dysregulation and (iii) prioritizing/annotating non-coding regulatory regions targeting CCND1. HACER provides a valuable resource for studies of GWAS, non-coding variants, and enhancer-mediated regulation." @default.
• W2892479680 created "2018-10-05" @default.
• W2892479680 creator A5009935328 @default.
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• W2892479680 date "2018-09-24" @default.
• W2892479680 modified "2023-09-30" @default.
• W2892479680 title "HACER: an atlas of human active enhancers to interpret regulatory variants" @default.
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• W2892479680 doi "https://doi.org/10.1093/nar/gky864" @default.
• W2892479680 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6323890" @default.
• W2892479680 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30247654" @default.
• W2892479680 hasPublicationYear "2018" @default.
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