Fig. 4

Genome- and phenome-wide association studies link cbSPs to diverse traits. Genome-wide significant (P < 1E−8) associations from the GWAS Catalog (A) and PheWAS over the UK Biobank (B) from the geneAtlas and NealeLab [26]. Each dot represents an association between a cbSP region and a trait. Many immune-related traits (under immune system disorder, blood assays, and other measurements) are associated with cbSPs, but there are also associations with a wider variety of phenotypes including lifestyle and environment, neurological traits, and cognitive performance. Since few cbSPs themselves were directly tested in GWAS, we include GWAS Catalog associations with tag variants in high LD (r² > 0.8) with the cbSPs. We also observed associations in the "other measurements" and “other disease” parent categories, which include miscellaneous measurements and traits that did not fit in the listed categories. All associations are given in Additional file 2: Tables S9 and S10. For the most enriched GWAS categories, see Additional file 1: Figure S4 and Additional file 2: Table S11