home > bioproject > PRJDB4631
identifier PRJDB4631
type bioproject
sameAs
organism Homo sapiens
title Allele specific chromatin interaction of 9p21 endometriosis risk locus regulates expression level of ANRIL
description We explored regulatory mechanism of a SNP on chromosome 9p21 associated with endometriosis by leveraging allele-specific functional genomic approaches. By re-sequencing 1.29 Mb of 9p21 region and scrutinizing DNase-seq data from the ENCODE project, we prioritized rs17761446 as a candidate functional variant that was in perfect linkage disequilibrium with the original GWAS SNP (rs10965235) and located on DNase I hypersensitive site. Chromosome conformation capture followed by high-throughput sequencing revealed that the protective G allele of rs17761446 exerted stronger chromatin interaction with ANRIL promoter.
data type Epigenomics Targeted Locus (Loci)
publication
27055116
properties 
{...}
dbXrefs
sra-run  DRR057203DRR057204
sra-submission  DRA004550
biosample  SAMD00048820SAMD00048821
sra-study  DRP003106
sra-sample  DRS029581DRS029582
sra-experiment  DRX051835DRX051836
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status public
visibility unrestricted-access
dateCreated 2016-03-02T17:22:40+09:00
dateModified 2016-05-02T13:00:54+09:00
datePublished 2016-05-02T13:00:53+09:00