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. 2022 Sep 23;12:952640. doi: 10.3389/fonc.2022.952640

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.

a

M: major allele; m: minor allele.

b

MAF: minor allele frequency in the 1000 Genomes European population.

c

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.

d

HaploReg: the tested SNP probably influences the expression of mentioned genes.

e

eQTL: the tested SNP is located in the eQTL (expression quantitative trait loci) of mentioned genes.

f

GTEx: the relationship between the tested SNP and the tissue in which the gene is expressed.