We use the University of California Santa Cruz (UCSC) genome browser to review sequence specific context of SNVs in relation to function, particularly in the Encyclopedia of DNA Elements (ENCODE) dataset68. We use the UCSC table browser to annotate SNVs in ENCODE regulatory regions. We evaluate SNVs for impact on putative micro RNA target sites in the 3’ un-translated regions (3’UTR) of transcripts by a query of the miRNASNP database69. We evaluate all SNVs in LD (r2 ≥ 0.8) with our validated sentinel SNVs for evidence of mediation of expression quantitative trait loci (eQTL) in all 44 tissues using the Genotype-Tissue Expression (GTEx) database, in order to identify validated loci which are highly expressed, and to highlight specific tissue types which show eQTLs for a large proportion of validated loci. We further seek to identify validated loci with the strongest evidence of eQTL associations in arterial tissue, in particular.
