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.