Table 4.
Summary of bioinformatic SNP annotations.
SNP ID | Gene | Alleles M/m a | MAF b | Rank c | HaploReg d | eQTL e | GTEx f |
---|---|---|---|---|---|---|---|
rs7787082 | ABCB1 | G/A | 0.18 | 6 | CRX FOXD3 GFI1 | – | Testes, skin |
rs3842 | ABCB1 | T/C | 0.14 | n/a | PLZF | ABCB4 | Brain, nerves |
rs2235023 | ABCB1 | C/T | 0.09 | 6 | CEBPB ISL2 POU1F1 RHOX11 | ABCB1 ABCB4 | Testes, muscles |
rs2214102 | ABCB1 | C/T | 0.09 | 4 | GR | – | Heart, colon |
rs2725256 | ABCG2 | A/G | 0.33 | 6 |
FOXA HNF4 HBP1
POU1F1 RXRA STAT |
SPP1 | Adipocytes |
rs12505410 | ABCG2 | T/G | 0.40 | 4 | PBX3 | – | Testes, blood |
rs2622621 | ABCG2 | C/G | 0.30 | 5 | - | – | Blood |
rs3114018 | ABCG2 | A/C | 0.49 | 5 | LHX3 MEF2 NANOG POU2F2 | – | Esophagus, heart |
rs3109823 | ABCG2 | T/C | 0.26 | 6 | CTCF NRF-2 YY1 | – | Blood |
rs2307418 | CAR | T/G | 0.15 | 5 | ERalpha-A GCMGR | TOMM40L USF1 | Brain, muscles, skin |
rs11265571 | CAR | A/T | 0.17 | 4 | ERalpha-A PAX-5 RHOX11 | Skin, testes, colon | |
rs2461818 | PXR | C/T | 0.08 | 6 | ARID5B FOXO2 FOXO3 FOXP1 HDAC2 IK2 PLZF SOX6 | PLA1A GSK3B | Thyroid |
rs11917714 | PXR | C/T | 0.17 | 6 | HIC1 | GSK3B | Nerves, small intestine, esophagus, testes |
rs3732357 | PXR | A/G | 0.35 | 5 | GLI GLIS2 ZIC | GSK3B | Adipocytes, colon, esophagus, stomach, arteries, thyroid, brain, muscles, lungs |
rs3732360 | PXR | T/C | 0.23 | 6 | E2A LMO2 MYF TATA | GSK3B GPR156 | Adipocytes, nerves, esophagus, brain, colon, arteries |
rs3732359 | PXR | A/G | 0.20 | 6 |
BCL NRSF PLAG1
SIN3AK20 TAL1 YY1 |
GSK3B GPR156 | Adipocytes, nerves, esophagus, brain, colon, arteries, thyroid |
The table contains associations for all SNPs, while those that occur only in blood cells are bold.
M: major allele; m: minor allele.
MAF: minor allele frequency in the 1000 Genomes European population.
Rank from RegulomeDB: 1 is given to SNPs showing the strongest evidence of a role in regulating the transcription process by binding transcription factors, while 6 to SNPs with a low probability of influencing to transcription.
HaploReg: the tested SNP probably influences the expression of mentioned genes.
eQTL: the tested SNP is located in the eQTL (expression quantitative trait loci) of mentioned genes.
GTEx: the relationship between the tested SNP and the tissue in which the gene is expressed.