rs2237679

Homo sapiens
C>T
SLC26A4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0219 (6576/29922,GnomAD)
T=0159 (4631/29118,TOPMED)
T=0259 (1299/5008,1000G)
T=0244 (941/3854,ALSPAC)
T=0253 (939/3708,TWINSUK)
chr7:107693581 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
75 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107693581C>T
GRCh37.p13 chr 7NC_000007.13:g.107334026C>T
SLC26A4 RefSeqGeneNG_008489.1:g.37947C>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 X2XM_017012318.1:c.N/AIntron Variant
SLC26A4 transcript variant X3XM_006716025.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.980T=0.020
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.653T=0.347
1000GenomesEuropeSub1006C=0.733T=0.267
1000GenomesGlobalStudy-wide5008C=0.741T=0.259
1000GenomesSouth AsianSub978C=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.756T=0.244
The Genome Aggregation DatabaseAfricanSub8716C=0.940T=0.060
The Genome Aggregation DatabaseAmericanSub838C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1602C=0.633T=0.367
The Genome Aggregation DatabaseEuropeSub18464C=0.721T=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.780T=0.219
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.841T=0.159
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.747T=0.253
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
rs22376797.77E-05alcohol consumption23743675

eQTL of rs2237679 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107334026AC002467.7ENSG00000241764.3C>T1.1747e-4-50855Cerebellum
Chr7:107334026AC002467.7ENSG00000241764.3C>T2.1985e-5-50855Frontal_Cortex_BA9
Chr7:107334026AC002467.7ENSG00000241764.3C>T1.0521e-4-50855Cortex
Chr7:107334026AC002467.7ENSG00000241764.3C>T4.1131e-5-50855Cerebellar_Hemisphere
Chr7:107334026AC002467.7ENSG00000241764.3C>T4.3055e-3-50855Caudate_basal_ganglia
Chr7:107334026AC002467.7ENSG00000241764.3C>T2.6099e-4-50855Anterior_cingulate_cortex
Chr7:107334026AC002467.7ENSG00000241764.3C>T1.0776e-3-50855Nucleus_accumbens_basal_ganglia

meQTL of rs2237679 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 )
chr7107333486107333578E067-448
chr7107333824107334105E0670
chr7107334175107334517E067149
chr7107334625107335182E067599
chr7107335233107335327E0671207
chr7107383023107383099E06748997
chr7107333486107333578E068-448
chr7107333824107334105E0680
chr7107334175107334517E068149
chr7107334625107335182E068599
chr7107335233107335327E0681207
chr7107341168107341256E0687142
chr7107341276107341497E0687250
chr7107382753107382818E06848727
chr7107333486107333578E069-448
chr7107333824107334105E0690
chr7107334175107334517E069149
chr7107334625107335182E069599
chr7107335233107335327E0691207
chr7107335529107335618E0691503
chr7107337294107337374E0693268
chr7107337495107337545E0693469
chr7107383023107383099E06948997
chr7107332948107333294E070-732
chr7107333486107333578E070-448
chr7107333824107334105E0700
chr7107334175107334517E070149
chr7107334625107335182E070599
chr7107335233107335327E0701207
chr7107335529107335618E0701503
chr7107335644107335829E0701618
chr7107337495107337545E0703469
chr7107337639107338679E0703613
chr7107383023107383099E07048997
chr7107332129107332230E071-1796
chr7107332267107332442E071-1584
chr7107332948107333294E071-732
chr7107333486107333578E071-448
chr7107333824107334105E0710
chr7107335233107335327E0711207
chr7107337495107337545E0713469
chr7107337639107338679E0713613
chr7107383023107383099E07148997
chr7107333824107334105E0720
chr7107334175107334517E072149
chr7107334625107335182E072599
chr7107337639107338679E0723613
chr7107383023107383099E07248997
chr7107333824107334105E0730
chr7107334175107334517E073149
chr7107334625107335182E073599
chr7107335233107335327E0731207
chr7107337639107338679E0733613
chr7107333486107333578E074-448
chr7107333824107334105E0740
chr7107334175107334517E074149
chr7107335233107335327E0741207
chr7107284299107284461E081-49565
chr7107285676107285811E081-48215
chr7107286010107286060E081-47966
chr7107286129107286181E081-47845
chr7107286235107286311E081-47715
chr7107333824107334105E0810
chr7107337639107338679E0813613
chr7107338996107339076E0814970
chr7107284299107284461E082-49565
chr7107285676107285811E082-48215
chr7107286010107286060E082-47966
chr7107286129107286181E082-47845
chr7107286235107286311E082-47715
chr7107334175107334517E082149
chr7107334625107335182E082599
chr7107337294107337374E0823268
chr7107337495107337545E0823469
chr7107337639107338679E0823613










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107300841107302741E067-31285
chr7107300841107302741E068-31285
chr7107300841107302741E069-31285
chr7107300841107302741E071-31285
chr7107300841107302741E072-31285
chr7107300841107302741E073-31285
chr7107300841107302741E074-31285
chr7107300841107302741E082-31285