Figure 2.
Summary figure depicting the functional annotation of the 66 single-nucleotide polymorphisms (SNPs) highlighted in the discovery phase. The figure presents the summary of functional annotation results for the 66 SNPs highlighted in the discovery analyses while showing the overlap between multiple functional annotations for each SNP. In addition to the eQTLs and meQTLs identified in blood and brain, we identified one splicing disruption variant (rs13385826) with SPANR, one missense variant (rs113317778), and four variants in regulatory regions (promoter (and flanking) region and transcription factor binding sites) with some SNPs overlapping promoter and enhancer in blood and brain.