Table 1. Expression quantitative trait locus (eQTL) analysis results between SNPs and the corresponding eQTL target genes.

SNP	Chr	position	Context	Allele	Association P-Value1	Gene12	Gene22	Implicated Gene3	eQTL Gene4	Effect4	Score4	Target4	Regulome DB score6
rs2278729	2	101668856	intron	A/G	1.00E-07	TBC1D8	TBC1D8	RPL31	RPL31	exon-QTL5	7.87	monocytes	1f
rs13182402	5	125918148	intron	A/G	2.00E-09	ALDH7A1	ALDH7A1	ALDH7A1	ALDH7A1	eQTL	45.14	LCLS	5
rs227584	17	42225547	missense	G/T	9.00E-07	C17orf53	C17orf53	SLC4A1	C17orf53	eQTL	35.55	LCLS	6
									TMUB2	eQTL	55.47	LCLS
rs228769	17	42193185	intron	G/C	2.00E-08	HDAC5	HDAC5	SLC4A1	C17orf65	eQTL	32.60	monocytes	4
rs1007738	11	46849360	intron	G/A	7.00E-07	CKAP5	CKAP5	CREB3L1	MTCH2	exon-QTL	3.59	LCLS	1f
									PHF21A	exon-QTL	3.91	LCLS
rs3736228	11	68201295	missense	C/T	6.00E-12	LRP5	LRP5	LRP5	CPT1A	eQTL	20.78	monocytes	1f
									MTL5	eQTL	13.26	monocytes
rs1038304	6	151933175	intron	A/G	4.00E-11	C6orf97	C6orf97	C6orf97	C6orf97	eQTL	12.56	monocytes	6
rs884205	18	60054857	intergenic	T/G	9.00E-09	TNFRSF11A	RPL17P44	TNFRSF11A	TNFRSF11A	eQTL	1.00	monocytes	5

Note

¹“Association P-value” are the results of PheGenI.

²“Gene 1” and “Gene 2” are the nearby genes physically located at two sides of the SNP.

³“Implicated genes" are the results from Gene Relationships Across Implicated Loci (GRAIL) analysis.

⁴"eQTL gene", "Effect", "Score", "Target" are the result of eQTL analysis. Score = −log₁₀(P-value). The P-values represented the differences of gene expression of the different genotypes.

⁵“exon-QTL”: quantified reads for known exons by RNA sequencing against SNPs. All the eQTL genes have cis-effect.

⁶"RegulomeDB Score" is a scoring scheme of RegulomeDB and represents the source of supporting evidence. Among those, "1f" refers to the evidence from "eQTL + TF binding/DNase peak","4" refers to TF binding + DNase peak, "5" refers to TF binding or DNase peak, "6" refers to the evidence from "other"LCLs: lymphoblastoid cell lines.