512 Integrative analysis using allele specific accessibility in immunocytes to unravel biological effect for complex skin-disease associated loci

Abstract

Despite the success of GWAS in identifying hundreds of loci associated with different complex inflammatory skin conditions, it is not trivial to decipher their molecular mechanisms due to the cell type specific regulatory features and the presence of linkage disequilibrium. We examined the allele specific chromatin accessibility (ASA) of >8 million common genetic variations in 1,227 ATAC-seq samples from resting and activated CD4 and CD8 T cells, and myeloid dendritic cells (mDC) in ∼150 individuals, revealing 54,746 heterozygous sites with high coverage ( 20 reads).