Fig. 3: Overlap of cis-QTL associations with GWAS hits annotated in the GWAS catalog.

a Overview of significant cis- eQTLs and pQTLs (FDR < 0.05) overlapping with GWAS hits for different disease traits. b Independent pQTL for GWAS hit creatine kinase levels. Shown are the non-significant cis-eQTL and the significant cis- pQTL and ratioQTL for the SNP rs1801690 and the gene APOH (FDR < 0.05). Statistics were derived based on two-sided t-tests for N = 75 (eQTLs), N = 75 (pQTL) and N = 66 (ratioQTL) biologically independent samples. A FDR < 0.05 per omic based on the Benjamini-Hochberg procedure was applied to assess significance and to account for multiple comparisons. In the boxplots, the lower and upper hinges correspond to the first and third quartiles (the 25th and 75th percentiles). The median is denoted by the central line in the box. The upper/lower whisker extends from the hinge to the largest/smallest value no further than 1.5 × IQR from the hinge. c For three different trait categories (cardiovascular traits, arrhythmias and atrial fibrillation) as well as rheumatoid arthritis as a negative control, the enrichment of GWAS hits at significant cis-QTLs (FDR < 0.05) was evaluated. Enrichments were calculated using Fisher̀s exact test (two-sided). 4,815,266 (eQTL) and 2,301,873 (pQTL) SNPs were evaluated for 7,817/4,661 (eQTL/pQTL) cardiovascular trait, 2,287/1,006 (eQTL/pQTL) arrhythmic, 691/394 (eQTL/pQTL) AF and 468/297 (eQTL/pQTL) RA GWAS hits. Odds ratios are presented with their 95% CI. Source data are provided as a Source Data file. QTL quantitative trait loci, GWAS genome-wide association study, SNP single-nucleotide polymorphism, eQTL expression quantitative trait loci, pQTL protein quantitative trait loci, ratioQTL ratio quantitative trait loci, CI confidence interval, IQR interquartile range. Source data are provided as a Source Data file.