rs3114717

Homo sapiens
C>T
STEAP1B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0423 (12655/29882,GnomAD)
T=0453 (13211/29118,TOPMED)
T=0473 (2367/5008,1000G)
T=0397 (1529/3854,ALSPAC)
T=0392 (1452/3708,TWINSUK)
chr7:22452771 (GRCh38.p7) (7p15.3)
AD
GWASdb2
1   publication(s)
See rs on genome
125 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.22452771C>T
GRCh37.p13 chr 7NC_000007.13:g.22492390C>T

Gene: STEAP1B, STEAP family member 1B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
STEAP1B transcript variant 1NM_001164460.1:c.N/AIntron Variant
STEAP1B transcript variant 2NM_207342.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.478T=0.522
1000GenomesAmericanSub694C=0.620T=0.380
1000GenomesEast AsianSub1008C=0.519T=0.481
1000GenomesEuropeSub1006C=0.576T=0.424
1000GenomesGlobalStudy-wide5008C=0.527T=0.473
1000GenomesSouth AsianSub978C=0.490T=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.603T=0.397
The Genome Aggregation DatabaseAfricanSub8688C=0.507T=0.493
The Genome Aggregation DatabaseAmericanSub838C=0.630T=0.370
The Genome Aggregation DatabaseEast AsianSub1612C=0.545T=0.455
The Genome Aggregation DatabaseEuropeSub18442C=0.609T=0.390
The Genome Aggregation DatabaseGlobalStudy-wide29882C=0.576T=0.423
The Genome Aggregation DatabaseOtherSub302C=0.570T=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.546T=0.453
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.608T=0.392
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs31147170.000735alcohol consumption (maxi-drinks)24277619

eQTL of rs3114717 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs3114717 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 )
chr72246763322467683E067-24707
chr72246779722467837E067-24553
chr72248259122482709E067-9681
chr72248276622483393E067-8997
chr72248342222483505E067-8885
chr72248360122483708E067-8682
chr72248385022485739E067-6651
chr72248574622486015E067-6375
chr72252044122520553E06728051
chr72252063622520822E06728246
chr72252110822521744E06728718
chr72252804722528287E06735657
chr72252829822528923E06735908
chr72252895922529036E06736569
chr72247313822474012E068-18378
chr72248205722482247E068-10143
chr72248276622483393E068-8997
chr72248342222483505E068-8885
chr72248360122483708E068-8682
chr72248385022485739E068-6651
chr72248574622486015E068-6375
chr72249258322493032E068193
chr72249304922493109E068659
chr72251837922518513E06825989
chr72252044122520553E06828051
chr72252063622520822E06828246
chr72252110822521744E06828718
chr72252206022522536E06829670
chr72252829822528923E06835908
chr72252895922529036E06836569
chr72246763322467683E069-24707
chr72246779722467837E069-24553
chr72248164422481694E069-10696
chr72248171422481772E069-10618
chr72248276622483393E069-8997
chr72248342222483505E069-8885
chr72248360122483708E069-8682
chr72248385022485739E069-6651
chr72248574622486015E069-6375
chr72249161422491700E069-690
chr72249258322493032E069193
chr72249304922493109E069659
chr72251999622520408E06927606
chr72252044122520553E06928051
chr72252063622520822E06928246
chr72252110822521744E06928718
chr72252760522528045E06935215
chr72252804722528287E06935657
chr72252829822528923E06935908
chr72252895922529036E06936569
chr72246763322467683E071-24707
chr72246779722467837E071-24553
chr72246788522467950E071-24440
chr72247313822474012E071-18378
chr72248240522482520E071-9870
chr72248259122482709E071-9681
chr72248276622483393E071-8997
chr72248342222483505E071-8885
chr72248360122483708E071-8682
chr72248385022485739E071-6651
chr72248574622486015E071-6375
chr72252044122520553E07128051
chr72252063622520822E07128246
chr72252110822521744E07128718
chr72252206022522536E07129670
chr72252804722528287E07135657
chr72252829822528923E07135908
chr72252895922529036E07136569
chr72246763322467683E072-24707
chr72246779722467837E072-24553
chr72246788522467950E072-24440
chr72246805922468113E072-24277
chr72248205722482247E072-10143
chr72248230322482353E072-10037
chr72248240522482520E072-9870
chr72248259122482709E072-9681
chr72248276622483393E072-8997
chr72248342222483505E072-8885
chr72248360122483708E072-8682
chr72248385022485739E072-6651
chr72248574622486015E072-6375
chr72251732522518196E07224935
chr72251837922518513E07225989
chr72252044122520553E07228051
chr72252063622520822E07228246
chr72252110822521744E07228718
chr72252206022522536E07229670
chr72252804722528287E07235657
chr72252829822528923E07235908
chr72252895922529036E07236569
chr72248182422482027E073-10363
chr72248205722482247E073-10143
chr72248230322482353E073-10037
chr72248240522482520E073-9870
chr72248259122482709E073-9681
chr72248276622483393E073-8997
chr72248342222483505E073-8885
chr72248360122483708E073-8682
chr72248385022485739E073-6651
chr72252063622520822E07328246
chr72252610322526153E07333713
chr72252629422526387E07333904
chr72252804722528287E07335657
chr72252829822528923E07335908
chr72252895922529036E07336569
chr72252909222529165E07336702
chr72246101622461112E074-31278
chr72246763322467683E074-24707
chr72246779722467837E074-24553
chr72246788522467950E074-24440
chr72247313822474012E074-18378
chr72248240522482520E074-9870
chr72248259122482709E074-9681
chr72248276622483393E074-8997
chr72248342222483505E074-8885
chr72248360122483708E074-8682
chr72248385022485739E074-6651
chr72248574622486015E074-6375
chr72249258322493032E074193
chr72251732522518196E07424935
chr72252044122520553E07428051
chr72252063622520822E07428246
chr72252110822521744E07428718
chr72252206022522536E07429670
chr72249161422491700E081-690








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr72249176622492565E0670
chr72253927422539314E06746884
chr72253936022539410E06746970
chr72253947522540179E06747085
chr72249176622492565E0680
chr72253927422539314E06846884
chr72253936022539410E06846970
chr72253947522540179E06847085
chr72253936022539410E06946970
chr72253947522540179E06947085
chr72249176622492565E0710
chr72253936022539410E07146970
chr72253947522540179E07147085
chr72249176622492565E0720
chr72253936022539410E07246970
chr72253947522540179E07247085
chr72249176622492565E0730
chr72253927422539314E07346884
chr72253936022539410E07346970
chr72253947522540179E07347085
chr72249176622492565E0740
chr72253936022539410E07446970
chr72253947522540179E07447085
chr72249176622492565E0820
chr72253936022539410E08246970
chr72253947522540179E08247085