Many of the GWAS-eQTL signals we examined did act in an expected fashion, regulating the genes in which they are located. For example, rs3768716 is a risk SNP for neuroblastoma43 located in and regulating BARD1 (P = 3.58 × 10−7 in temporal cortex and P = 1.02 × 10−11 in average-all for expression ID t2598099; Fig. 7d). The BARD1 gene product heterodimerizes with the product of the familial breast cancer gene BRCA1 and is considered essential for BRCA1’s tumor suppressive function. Similarly, rs3818361 is a risk SNP for Alzheimer’s disease2,44,45 located in and regulating the complement receptor 1 gene CR1 (P = 1.11 × 10−6 in white matter and P = 1.11 × 10−6 in average-all for expression ID t2377332).
