rs2712210

Homo sapiens
C>T
SLC26A4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0203 (6099/29916,GnomAD)
T=0157 (4578/29118,TOPMED)
T=0259 (1297/5008,1000G)
T=0234 (901/3854,ALSPAC)
T=0246 (914/3708,TWINSUK)
chr7:107687407 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107687407C>T
GRCh37.p13 chr 7NC_000007.13:g.107327852C>T
SLC26A4 RefSeqGeneNG_008489.1:g.31773C>T

Gene: SLC26A4, solute carrier family 26 member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC26A4 transcriptNM_000441.1:c.N/AIntron Variant
SLC26A4 transcript variant X1XM_005250425.2:c.N/AIntron Variant
SLC26A4 transcript variant X3XM_006716025.3:c.N/AIntron Variant
SLC26A4 transcript variant X2XM_017012318.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.959T=0.041
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.655T=0.345
1000GenomesEuropeSub1006C=0.739T=0.261
1000GenomesGlobalStudy-wide5008C=0.741T=0.259
1000GenomesSouth AsianSub978C=0.550T=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.766T=0.234
The Genome Aggregation DatabaseAfricanSub8716C=0.930T=0.070
The Genome Aggregation DatabaseAmericanSub838C=0.740T=0.260
The Genome Aggregation DatabaseEast AsianSub1604C=0.633T=0.367
The Genome Aggregation DatabaseEuropeSub18458C=0.750T=0.249
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.796T=0.203
The Genome Aggregation DatabaseOtherSub300C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.842T=0.157
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.754T=0.246
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs27122104.75E-05alcohol consumption23743675

eQTL of rs2712210 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107327852AC002467.7ENSG00000241764.3C>T1.1747e-4-57029Cerebellum
Chr7:107327852AC002467.7ENSG00000241764.3C>T2.1985e-5-57029Frontal_Cortex_BA9
Chr7:107327852AC002467.7ENSG00000241764.3C>T1.0521e-4-57029Cortex
Chr7:107327852AC002467.7ENSG00000241764.3C>T4.1131e-5-57029Cerebellar_Hemisphere
Chr7:107327852AC002467.7ENSG00000241764.3C>T1.0776e-3-57029Nucleus_accumbens_basal_ganglia

meQTL of rs2712210 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr7107333486107333578E0675634
chr7107333824107334105E0675972
chr7107334175107334517E0676323
chr7107334625107335182E0676773
chr7107335233107335327E0677381
chr7107333486107333578E0685634
chr7107333824107334105E0685972
chr7107334175107334517E0686323
chr7107334625107335182E0686773
chr7107335233107335327E0687381
chr7107341168107341256E06813316
chr7107341276107341497E06813424
chr7107333486107333578E0695634
chr7107333824107334105E0695972
chr7107334175107334517E0696323
chr7107334625107335182E0696773
chr7107335233107335327E0697381
chr7107335529107335618E0697677
chr7107337294107337374E0699442
chr7107337495107337545E0699643
chr7107332948107333294E0705096
chr7107333486107333578E0705634
chr7107333824107334105E0705972
chr7107334175107334517E0706323
chr7107334625107335182E0706773
chr7107335233107335327E0707381
chr7107335529107335618E0707677
chr7107335644107335829E0707792
chr7107337495107337545E0709643
chr7107337639107338679E0709787
chr7107332129107332230E0714277
chr7107332267107332442E0714415
chr7107332948107333294E0715096
chr7107333486107333578E0715634
chr7107333824107334105E0715972
chr7107335233107335327E0717381
chr7107337495107337545E0719643
chr7107337639107338679E0719787
chr7107333824107334105E0725972
chr7107334175107334517E0726323
chr7107334625107335182E0726773
chr7107337639107338679E0729787
chr7107333824107334105E0735972
chr7107334175107334517E0736323
chr7107334625107335182E0736773
chr7107335233107335327E0737381
chr7107337639107338679E0739787
chr7107333486107333578E0745634
chr7107333824107334105E0745972
chr7107334175107334517E0746323
chr7107335233107335327E0747381
chr7107282141107282493E081-45359
chr7107282591107282693E081-45159
chr7107282863107282998E081-44854
chr7107283113107283227E081-44625
chr7107283673107283730E081-44122
chr7107283865107284151E081-43701
chr7107284299107284461E081-43391
chr7107285676107285811E081-42041
chr7107286010107286060E081-41792
chr7107286129107286181E081-41671
chr7107286235107286311E081-41541
chr7107333824107334105E0815972
chr7107337639107338679E0819787
chr7107338996107339076E08111144
chr7107282141107282493E082-45359
chr7107282591107282693E082-45159
chr7107282863107282998E082-44854
chr7107283113107283227E082-44625
chr7107283673107283730E082-44122
chr7107283865107284151E082-43701
chr7107284299107284461E082-43391
chr7107285676107285811E082-42041
chr7107286010107286060E082-41792
chr7107286129107286181E082-41671
chr7107286235107286311E082-41541
chr7107334175107334517E0826323
chr7107334625107335182E0826773
chr7107337294107337374E0829442
chr7107337495107337545E0829643
chr7107337639107338679E0829787










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107300841107302741E067-25111
chr7107300841107302741E068-25111
chr7107300841107302741E069-25111
chr7107300841107302741E071-25111
chr7107300841107302741E072-25111
chr7107300841107302741E073-25111
chr7107300841107302741E074-25111
chr7107300841107302741E082-25111