Allelic expression mapping across cell lineages reveal repressor disruption among disease SNPs

ABSTRACT: Most variants associated to diseases are located in non-coding regions of the genome, and are thought to be regulatory in nature. Cis-regulatory SNPs (cis-rSNPs) impacting transcription can be identified through the mapping of differences in allelic expression (AE). We mapped common cis-rSNPs of protein coding and non-coding genes in 3 distinct cell-types. We show 70% sharing across tissues and similar genetically controlled transcription for protein-coding genes and lincRNAs. Candidate cis-rSNPs altering the expression of 42 non-coding RNA overlap SNPs underlying GWAS associations for 39 diseases. We uncover a new class of cis-rSNPs leading to disruption of footprint-derived de novo motifs, predominantly bind by repressive factors and implicated in disease susceptibility through overlaps

ORGANISM(S): Homo sapiens

SUBMITTER: Tony Kwan 

PROVIDER: E-GEOD-53837 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress