Table 3.

Exploration of SNP functional relevance: RegulomeDB score, expression quantitative trait locus (eQTL) analyses for selected SNP-gene pairs in tumor (TCGA-KIRC) and normal (GTEx) kidney tissue samples and previous genome-wide significant findings for other traits.

				eQTL Analyses
				TCGA, KIRC (N=527)		GTEx, Kidney Cortex (N=73)
SNP	A/a	RegulomeDB Score	Gene	B a	P	β	P	In NHGRI-EBI GWAS Catalog (Trait)
rs12124078	A/G	1f	CASP9	0.26	3.6 × 10−7	0.39	0.0075	Glomerular filtration rate
rs41324853	T/C	4	- b					- c
rs2979488	A/G	4	RBPMS	−0.27	2.6 × 10−6	0.02	0.89	Leukocyte count
rs61758464	G/A	5	ZBTB42	−0.28	1.2 × 10−4	−0.12	0.51	-

^aSNP-gene association at false discovery rate < 0.05 in database of TCGA eQTLs (12). β represents directional expression effect for rare allele.

^bNo eQTL identified.

^cNo entry in GWAS Catalog.