Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease

Table 2 Co-localization analysis with two CHD GWASs and eQTL findings

Chro	Regions	Gene	Source for Co-localization	PP0	PP1	PP2	PP3	PP4
6	32,520,489–32,527,779	HLA-DRB6	GWAS – Phase 1	1.12e-10	0.028	1.95e-09	0	0.972
10	93,542,595–93,558,048	TNKS2-AS1	eQTL – Artery Aorta	1.11e-02	2.11e-02	5.07e-04	0	0.967
			eQTL – Artery Tibial	2.12e-03	4.04e-03	5.21e-04		0.993
			eQTL – Heart Atrial Appendage	1.34e-04	2.56e-04	5.24e-04		0.999
			eQTL – Heart Left Ventricle	8.05e-04	1.53e-03	5.23e-04		0.997
14	77,425,980–77,432,145	LINC01629	eQTL – Artery Aorta	3.70e-03	2.95e-02	1.97e-04	6.04e-04	0.966
			eQTL – Artery Tibial	1.38e-07	1.09e-06	1.27e-04	0	0.999
			eQTL – Heart Artial Appendage	3.11e-06	2.45e-05	1.27e-04	0	0.999
5	33,440,801–33,468,196	TARS	eQTL – Artery Aorta	2.72E-07	1.37e-02	1.95e-08	0	0.986
5	33,440,801–33,468,196	TARS	eQTL – Artery Tibial	2.41E-08	1.22e-03	1.97e-08	0	0.999
19	37,803,738–37,855,358	ZNF875	eQTL – Heart Artial Appendage	1.93e-05	5.59e-07	3.34e-02	0	0.967
19	37,803,738–37,855,358	ZNF875	eQTL – Heart Left Ventricle	2.42e-05	7.01e-07	3.34e-02	0	0;967
19	53,362,743–53,400,947	ZNF320	eQTL – Artery Aorta	1.03e-12	2.85e-03	3.50e-14	0	0.972
19	53,362,743–53,400,947	ZNF320	eQTL – Artery Tibial	6.95e-13	1.93e-03	3.53e-14	0	0.981
10	104,613,966–104,661,655	BORCS7 / ASMT	eQTL – Artery Aorta	1.10e-02	6.92e-04	1.55e-02	5.11e-06	0.973
10	104,613,966–104,661,655	BORCS7 / ASMT	eQTL – Artery Tibial	7.95e-05	5.00e-06	1.57e-02	0	0.984

PP0 – PP4: Bayesian posterior probability for hypotheses H0 to H4, respectively
H0: there exist no causal variants for either trait;
H1: there exists a causal variant for trait 1;
H2: there exists a causal variant for trait 2;
H3: there exist two distinct causal variants, one for each trait; or
H4: there exists a single causal variant common to both traits
HLA-DRB6: major histocompatibility complex, class II, DR beta 6
TNKS2-AS1: TNKS2 antisense RNA 1
LINC01629: long intergenic non-protein coding RNA 1629
TARS: threonyl-tRNA synthetase
ZNF875: Homo sapiens zinc finger protein 875
ZNF320: zinc finger protein 320
BORCS7 / ASMT: BLOC-1 related complex subunit 7 / acetylserotonin O- methyltransferase