eGenes in mendelian disorders

Chromatin interactions (using Hi-C) and functional (using eQTL) data were used to identify long-range regulatory associations involving >20,000 GWAS variants and their target genes (i.e. eGenes). Analysis of the OMIM data shows that eGenes, which are also involved in rare Mendelian disorders are spatially associated with eQTLs marked by common variants. These eGenes are given, together with the phenotypes they are associated with.本研究利用染色质相互作用（Hi-C技术）与功能组学（表达数量性状位点（eQTL））数据，鉴定涉及20000余个全基因组关联研究（GWAS）变异体及其靶基因（即eGenes）的长程调控关联。对在线人类孟德尔遗传（OMIM）数据的分析显示，同时参与罕见孟德尔疾病的eGenes，与以常见变异体标记的eQTL存在空间关联。本数据集收录了这些eGenes及其关联的表型信息。