List of eQTL hits for the selected panel of SNPs
SNP ID | Significant eQTL for | P | Tissue | Other gene(s) | Other tissue(s) |
rs17601876 | GLDN | 1.2e-08 | Adipose – subcutaneous | SPPL2A, DMXL2 | Skin – sun exposed (lower leg); colon – sigmoid; cells – cultured fibroblasts; muscle – skeletal; spleen; skin – not sun exposed (suprapubic); nerve – tibial |
CYP19A1 | 3.4e-07 | Whole blood | |||
CYP19A1 | 5.8e-06 | Adipose – subcutaneous | |||
rs3184504 | TMEM116 | 1.7e-04 | Adipose – subcutaneous | ALDH2, LINC01405, ADAM1B | Oesophagus – mucosa; skin – not sun exposed (suprapubic); skin – sun exposed (lower leg); muscle – skeletal; artery – aorta; heart – atrial appendage; artery – tibial; colon – sigmoid; brain – nucleus accumbens (basal ganglia) |
MAPKAPK5 | 2.6e-04 | Adipose – subcutaneous | |||
rs2747716 | RP11-624M8.1 | 4.2e-11 | Pituitary | HDDC2 | Artery – tibial; pancreas; thyroid; brain – nucleus accumbens (basal ganglia); brain – substantia nigra; oesophagus – muscularis; nerve – tibial; Brain – caudate (basal ganglia); adipose – visceral (omentum); brain – spinal cord (cervical c-1); artery – aorta; brain – cortex; brain – hypothalamus; muscle – skeletal; brain – cerebellum; heart – left ventricle; brain – putamen (basal ganglia); brain – frontal cortex (BA9); brain – cerebellar hemisphere |
RP11-624M8.1 | 8.2e-11 | Adipose – subcutaneous | |||
HEY2 | 9.7e-10 | Testis | |||
HEY2 | 2.1e-09 | Ovary | |||
RP11-624M8.1 | 1.7e-07 | Breast – mammary tissue | |||
RP11-624M8.1 | 1.3e-06 | Ovary | |||
rs9668337 | BHLHE41 | 9.0e-17 | Thyroid | RP11-283G6.3 | Cells – cultured fibroblasts |
SSPN | 1.1e-04 | Thyroid | |||
rs882380 | SNX11 | 3.1e-25 | Adipose – subcutaneous | RP5-890E16.5, CBX1, LRRC46, MRPL10, RP11-6N17.4, CDK5RAP3, SP6, PRR15L, RP5-890E16.2, PNPO, RP11-6N17.3, HOXB1, HOXB-AS1, NFE2L1 | Skin – sun exposed (lower leg); cells – cultured fibroblasts; adipose – visceral (omentum); lung; skin – not sun exposed (suprapubic); pancreas; spleen; oesophagus – muscularis; artery – aorta; heart – atrial appendage; liver; colon – transverse; thyroid; artery – tibial; colon – sigmoid; oesophagus – gastro-oesophageal junction; stomach; muscle – skeletal; small intestine – terminal Ileum; prostate; brain – cerebellum; brain – cerebellar hemisphere; minor salivary gland; adrenal gland; oesophagus – mucosa |
SNX11 | 1.0e-21 | Whole blood | |||
SNX11 | 1.2e-13 | Breast – mammary tissue | |||
COPZ2 | 9.3e-12 | Testis | |||
SKAP1 | 3.3e-08 | Whole blood | |||
HOXB2 | 2.6e-05 | Adipose – subcutaneous | |||
rs937213 | EIF2AK4 | 4.7e-11 | Adipose – visceral (omentum) | SRP14 | Thyroid; oesophagus – mucosa; skin – sun exposed (lower leg); stomach; oesophagus – muscularis; pancreas; skin – not sun exposed (suprapubic); colon – transverse; adipose – subcutaneous; lung; colon – sigmoid; muscle – skeletal; nerve – tibial; whole blood; oesophagus – gastro-oesophageal junction; artery – tibial; adrenal gland; spleen; heart – left ventricle; heart – atrial appendage |
EIF2AK4 | 3.4e-08 | Breast – mammary tissue | N/A | ||
RP11-521C20.5 | 5.4e-07 | Testis | N/A | ||
RP11-521C20.5 | 7.4e-07 | Prostate | N/A | ||
rs2498794 | AKT1 | 1.7e-30 | Thyroid | ZBTB42 | Oesophagus – mucosa; artery – tibial; oesophagus – muscularis; skin – sun exposed (lower leg); skin – not sun exposed (suprapubic); cells – cultured fibroblasts; artery – aorta; oesophagus – gastro-oesophageal junction; adipose – subcutaneous; colon – sigmoid; colon – transverse; heart – atrial appendage |
ADSSL1 | 5.5e-25 | Testis | |||
SIVA1 | 1.8e-07 | Adipose – visceral (omentum) | |||
ADSSL1 | 2.6e-05 | Ovary | |||
SIVA1 | 4.4e-05 | Breast – mammary tissue | |||
rs10835920 | WT1-AS | 5.5e-06 | Spleen | N/A | Oesophagus -– muscularis |
rs148261157 | KIAA1841 | 1.3e-05 | Oesophagus – muscularis | N/A | N/A |
rs113998067 | RSPO1 | 2.7e-10 | Artery – tibial | EPHA10, FHL3, DNALI1 | Nerve – tibial; artery – aorta; colon – transverse |
rs1129506 | EVI2A | 4.3e-20 | Whole blood | OMG, RAB11FIP4 | Spleen; oesophagus – mucosa; artery – tibial; lung; artery – aorta; skin – sun exposed (lower leg); nerve – tibial; heart – atrial appendage; adipose – visceral (omentum); cells – cultured fibroblasts; liver; stomach; brain – amygdala; skin – not sun exposed (suprapubic); brain – caudate (basal ganglia); muscle – skeletal; colon – sigmoid |
NF1 | 3.5e-09 | Adipose – subcutaneous | |||
NF1 | 2.2e-07 | Thyroid | |||
NF1 | 3.7e-07 | Testis | |||
rs673604 | ZMYM1 | 7.0e-07 | Adipose – subcutaneous | RP4-665N4.8, ZMYM4, KIAA0319L, TFAP2E | Skin – sun exposed (lower leg); oesophagus – muscularis; cells – EBV-transformed lymphocytes; oesophagus – mucosa; nerve – tibial; brain – cerebellum |
MAP7D1 | 1.0e-05 | Whole blood | |||
rs1953358 | LINC00520 | 1.5e-05 | Skin – not sun exposed (suprapubic) | N/A | N/A |
rs8178648 | PROS1 | 3.0e-04 | Skin – sun exposed (lower leg) | N/A | N/A |
Top significant eQTL hits from different tissues are shown in the table. There were no significant hits reported for some SNPs which are hence not included in this table.
EBV, Epstein-Barr virus; SNP, single nucleotide polymorphism.