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Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to determine the mechanisms underpinning variant association with platelet quantitative traits using cell type-matched epigenomic data and promoter long-range interactions. We identify potential regulatory functions for 423 of 565 (75%) non-coding variants associated with platelet traits and we demonstrate, through ex vivo and proof of principle genome editing validation, that variants in super enhancers play an important role in controlling archetypical platelet functions.

Original publication

DOI

10.1038/ncomms16058

Type

Journal article

Journal

Nat Commun

Publication Date

13/07/2017

Volume

8

Keywords

Blood Platelets, Chromatin, Enhancer Elements, Genetic, Erythroblasts, Genetic Variation, Humans, Megakaryocytes, Promoter Regions, Genetic