variant using the BSgenome.Hsapiens.UCSC.hg19 R package. All variants from the UK10K were used as the background set of genetic variants. Depending on the particular enrichment analysis, our eQTL data were either considered as the GWAS trait (using the minimum P value across all genes/transcripts tested) or the annotation, where all variants associated with at least one gene/transcript at 5% FDR were used to construct the functional category.
