rs2712218

Homo sapiens
G>A
SLC26A4 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0183 (5480/29914,GnomAD)
A=0135 (3936/29118,TOPMED)
A=0241 (1209/5008,1000G)
A=0208 (803/3854,ALSPAC)
A=0223 (826/3708,TWINSUK)
chr7:107716314 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
86 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107716314G>A
GRCh37.p13 chr 7NC_000007.13:g.107356759G>A
SLC26A4 RefSeqGeneNG_008489.1:g.60680G>A

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

Molecule type Change Amino acid[Codon] SO Term
SLC26A4 transcriptNM_000441.1:c.N/A3 Prime UTR Variant
SLC26A4 transcript variant X1XM_005250425.2:c.N/A3 Prime UTR Variant
SLC26A4 transcript variant X2XM_017012318.1:c.N/A3 Prime UTR Variant
SLC26A4 transcript variant X3XM_006716025.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.984A=0.016
1000GenomesAmericanSub694G=0.750A=0.250
1000GenomesEast AsianSub1008G=0.659A=0.341
1000GenomesEuropeSub1006G=0.769A=0.231
1000GenomesGlobalStudy-wide5008G=0.759A=0.241
1000GenomesSouth AsianSub978G=0.550A=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.792A=0.208
The Genome Aggregation DatabaseAfricanSub8730G=0.954A=0.046
The Genome Aggregation DatabaseAmericanSub832G=0.760A=0.240
The Genome Aggregation DatabaseEast AsianSub1602G=0.640A=0.360
The Genome Aggregation DatabaseEuropeSub18448G=0.770A=0.229
The Genome Aggregation DatabaseGlobalStudy-wide29914G=0.816A=0.183
The Genome Aggregation DatabaseOtherSub302G=0.790A=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.864A=0.135
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.777A=0.223
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
rs27122182.35E-05alcohol consumption23743675

eQTL of rs2712218 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107356759AC002467.7ENSG00000241764.3G>A1.1747e-4-28122Cerebellum
Chr7:107356759AC002467.7ENSG00000241764.3G>A2.1985e-5-28122Frontal_Cortex_BA9
Chr7:107356759AC002467.7ENSG00000241764.3G>A1.0521e-4-28122Cortex
Chr7:107356759AC002467.7ENSG00000241764.3G>A4.1131e-5-28122Cerebellar_Hemisphere
Chr7:107356759AC002467.7ENSG00000241764.3G>A4.3055e-3-28122Caudate_basal_ganglia
Chr7:107356759AC002467.7ENSG00000241764.3G>A1.0776e-3-28122Nucleus_accumbens_basal_ganglia

meQTL of rs2712218 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 )
chr7107333486107333578E067-23181
chr7107333824107334105E067-22654
chr7107334175107334517E067-22242
chr7107334625107335182E067-21577
chr7107335233107335327E067-21432
chr7107383023107383099E06726264
chr7107386669107386772E06729910
chr7107387624107387709E06730865
chr7107387798107387880E06731039
chr7107333486107333578E068-23181
chr7107333824107334105E068-22654
chr7107334175107334517E068-22242
chr7107334625107335182E068-21577
chr7107335233107335327E068-21432
chr7107341168107341256E068-15503
chr7107341276107341497E068-15262
chr7107382753107382818E06825994
chr7107386669107386772E06829910
chr7107387624107387709E06830865
chr7107387798107387880E06831039
chr7107387932107387978E06831173
chr7107388350107388400E06831591
chr7107333486107333578E069-23181
chr7107333824107334105E069-22654
chr7107334175107334517E069-22242
chr7107334625107335182E069-21577
chr7107335233107335327E069-21432
chr7107335529107335618E069-21141
chr7107337294107337374E069-19385
chr7107337495107337545E069-19214
chr7107383023107383099E06926264
chr7107386669107386772E06929910
chr7107387624107387709E06930865
chr7107387798107387880E06931039
chr7107387932107387978E06931173
chr7107332948107333294E070-23465
chr7107333486107333578E070-23181
chr7107333824107334105E070-22654
chr7107334175107334517E070-22242
chr7107334625107335182E070-21577
chr7107335233107335327E070-21432
chr7107335529107335618E070-21141
chr7107335644107335829E070-20930
chr7107337495107337545E070-19214
chr7107337639107338679E070-18080
chr7107383023107383099E07026264
chr7107386669107386772E07029910
chr7107387798107387880E07031039
chr7107387932107387978E07031173
chr7107388350107388400E07031591
chr7107332129107332230E071-24529
chr7107332267107332442E071-24317
chr7107332948107333294E071-23465
chr7107333486107333578E071-23181
chr7107333824107334105E071-22654
chr7107335233107335327E071-21432
chr7107337495107337545E071-19214
chr7107337639107338679E071-18080
chr7107383023107383099E07126264
chr7107333824107334105E072-22654
chr7107334175107334517E072-22242
chr7107334625107335182E072-21577
chr7107337639107338679E072-18080
chr7107383023107383099E07226264
chr7107386669107386772E07229910
chr7107333824107334105E073-22654
chr7107334175107334517E073-22242
chr7107334625107335182E073-21577
chr7107335233107335327E073-21432
chr7107337639107338679E073-18080
chr7107333486107333578E074-23181
chr7107333824107334105E074-22654
chr7107334175107334517E074-22242
chr7107335233107335327E074-21432
chr7107333824107334105E081-22654
chr7107337639107338679E081-18080
chr7107338996107339076E081-17683
chr7107334175107334517E082-22242
chr7107334625107335182E082-21577
chr7107337294107337374E082-19385
chr7107337495107337545E082-19214
chr7107337639107338679E082-18080
chr7107386669107386772E08229910
chr7107387798107387880E08231039
chr7107387932107387978E08231173
chr7107388350107388400E08231591










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E06726359
chr7107383118107385525E06826359
chr7107383118107385525E06926359
chr7107383118107385525E07026359
chr7107383118107385525E07126359
chr7107383118107385525E07226359
chr7107383118107385525E07326359
chr7107383118107385525E07426359
chr7107383118107385525E08126359
chr7107383118107385525E08226359