rs12704637

Homo sapiens
C>T
KRIT1 : Intron Variant
ANKIB1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0267 (7954/29750,GnomAD)
T=0230 (6705/29118,TOPMED)
T=0197 (986/5008,1000G)
T=0391 (1505/3854,ALSPAC)
T=0380 (1409/3708,TWINSUK)
chr7:92245372 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
173 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92245372C>T
GRCh37.p13 chr 7NC_000007.13:g.91874686C>T
KRIT1 RefSeqGene LRG_650

Gene: KRIT1, KRIT1, ankyrin repeat containing(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KRIT1 transcript variant 5NM_001013406.1:c.N/AIntron Variant
KRIT1 transcript variant 2NM_004912.3:c.N/AIntron Variant
KRIT1 transcript variant 3NM_194454.1:c.N/AIntron Variant
KRIT1 transcript variant 4NM_194455.1:c.N/AIntron Variant
KRIT1 transcript variant 1NM_194456.1:c.N/AIntron Variant
KRIT1 transcript variant X3XM_005250660.3:c.N/AIntron Variant
KRIT1 transcript variant X6XM_005250662.3:c.N/AIntron Variant
KRIT1 transcript variant X9XM_005250665.3:c.N/AIntron Variant
KRIT1 transcript variant X8XM_005250666.3:c.N/AIntron Variant
KRIT1 transcript variant X12XM_005250667.2:c.N/AIntron Variant
KRIT1 transcript variant X19XM_005250668.3:c.N/AIntron Variant
KRIT1 transcript variant X21XM_005250669.3:c.N/AIntron Variant
KRIT1 transcript variant X4XM_006716161.3:c.N/AIntron Variant
KRIT1 transcript variant X10XM_006716162.3:c.N/AIntron Variant
KRIT1 transcript variant X20XM_006716163.3:c.N/AIntron Variant
KRIT1 transcript variant X1XM_011516651.2:c.N/AIntron Variant
KRIT1 transcript variant X2XM_011516653.2:c.N/AIntron Variant
KRIT1 transcript variant X5XM_011516654.2:c.N/AIntron Variant
KRIT1 transcript variant X11XM_011516655.2:c.N/AIntron Variant
KRIT1 transcript variant X13XM_011516656.2:c.N/AIntron Variant
KRIT1 transcript variant X15XM_011516657.2:c.N/AIntron Variant
KRIT1 transcript variant X17XM_011516658.2:c.N/AIntron Variant
KRIT1 transcript variant X18XM_011516659.2:c.N/AIntron Variant
KRIT1 transcript variant X22XM_011516660.2:c.N/AIntron Variant
KRIT1 transcript variant X23XM_011516661.2:c.N/AIntron Variant
KRIT1 transcript variant X7XM_017012755.1:c.N/AIntron Variant
KRIT1 transcript variant X14XM_017012756.1:c.N/AIntron Variant
KRIT1 transcript variant X16XM_017012757.1:c.N/AIntron Variant
KRIT1 transcript variant X24XM_017012758.1:c.N/AIntron Variant
KRIT1 transcript variant X25XM_017012759.1:c.N/AIntron Variant

Gene: ANKIB1, ankyrin repeat and IBR domain containing 1(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
ANKIB1 transcriptNM_019004.1:c.N/AUpstream Transcript Variant
ANKIB1 transcript variant X1XM_005250458.3:c.N/AUpstream Transcript Variant
ANKIB1 transcript variant X2XM_011516334.1:c.N/AUpstream Transcript Variant
ANKIB1 transcript variant X5XM_017012359.1:c.N/AUpstream Transcript Variant
ANKIB1 transcript variant X3XM_011516335.2:c.N/AN/A
ANKIB1 transcript variant X6XM_017012360.1:c.N/AN/A
ANKIB1 transcript variant X4XR_927480.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.974T=0.026
1000GenomesAmericanSub694C=0.750T=0.250
1000GenomesEast AsianSub1008C=0.919T=0.081
1000GenomesEuropeSub1006C=0.617T=0.383
1000GenomesGlobalStudy-wide5008C=0.803T=0.197
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.609T=0.391
The Genome Aggregation DatabaseAfricanSub8658C=0.918T=0.082
The Genome Aggregation DatabaseAmericanSub832C=0.770T=0.230
The Genome Aggregation DatabaseEast AsianSub1606C=0.915T=0.085
The Genome Aggregation DatabaseEuropeSub18354C=0.630T=0.369
The Genome Aggregation DatabaseGlobalStudy-wide29750C=0.732T=0.267
The Genome Aggregation DatabaseOtherSub300C=0.580T=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.769T=0.230
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.620T=0.380
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs127046370.000208alcohol dependence21314694

eQTL of rs12704637 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 rs12704637 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 )
chr79187340791873480E067-1206
chr79187768691877749E0673000
chr79188053091880786E0675844
chr79188122491881384E0676538
chr79188139391881522E0676707
chr79188210591882191E0677419
chr79188274691882851E0678060
chr79188309091883144E0678404
chr79188324891883425E0678562
chr79190822991908279E06733543
chr79190844691908700E06733760
chr79190881991909032E06734133
chr79190903491909246E06734348
chr79190932991909442E06734643
chr79190949091909548E06734804
chr79191272891912816E06738042
chr79191282191912931E06738135
chr79192260591922655E06747919
chr79192279491923141E06748108
chr79192430591924448E06749619
chr79187340791873480E068-1206
chr79188122491881384E0686538
chr79188139391881522E0686707
chr79188210591882191E0687419
chr79188274691882851E0688060
chr79188309091883144E0688404
chr79188324891883425E0688562
chr79190598491906037E06831298
chr79190822991908279E06833543
chr79190844691908700E06833760
chr79190881991909032E06834133
chr79190903491909246E06834348
chr79190932991909442E06834643
chr79190949091909548E06834804
chr79192260591922655E06847919
chr79192279491923141E06848108
chr79187768691877749E0693000
chr79188053091880786E0695844
chr79188122491881384E0696538
chr79188139391881522E0696707
chr79188210591882191E0697419
chr79188274691882851E0698060
chr79188309091883144E0698404
chr79188324891883425E0698562
chr79189814491898194E06923458
chr79190598491906037E06931298
chr79190822991908279E06933543
chr79190844691908700E06933760
chr79190881991909032E06934133
chr79190903491909246E06934348
chr79190932991909442E06934643
chr79191166791911737E06936981
chr79191179391911844E06937107
chr79191210591912195E06937419
chr79191222491912353E06937538
chr79191242191912534E06937735
chr79192240391922570E06947717
chr79192260591922655E06947919
chr79192279491923141E06948108
chr79187286691872906E070-1780
chr79187324991873319E070-1367
chr79187333491873384E070-1302
chr79187340791873480E070-1206
chr79187786891877976E0703182
chr79190822991908279E07033543
chr79190844691908700E07033760
chr79190881991909032E07034133
chr79190903491909246E07034348
chr79190932991909442E07034643
chr79192240391922570E07047717
chr79192260591922655E07047919
chr79192279491923141E07048108
chr79192430591924448E07049619
chr79187768691877749E0713000
chr79188053091880786E0715844
chr79188122491881384E0716538
chr79188139391881522E0716707
chr79188210591882191E0717419
chr79188274691882851E0718060
chr79188309091883144E0718404
chr79188324891883425E0718562
chr79188554491885607E07110858
chr79188577291885822E07111086
chr79189814491898194E07123458
chr79190822991908279E07133543
chr79190844691908700E07133760
chr79190881991909032E07134133
chr79190903491909246E07134348
chr79190932991909442E07134643
chr79190949091909548E07134804
chr79191020791910267E07135521
chr79191049991910560E07135813
chr79191263491912707E07137948
chr79192240391922570E07147717
chr79192260591922655E07147919
chr79192279491923141E07148108
chr79192430591924448E07149619
chr79187340791873480E072-1206
chr79187768691877749E0723000
chr79187786891877976E0723182
chr79188053091880786E0725844
chr79188122491881384E0726538
chr79188139391881522E0726707
chr79188210591882191E0727419
chr79188274691882851E0728060
chr79188309091883144E0728404
chr79188324891883425E0728562
chr79189841391898463E07223727
chr79190822991908279E07233543
chr79190844691908700E07233760
chr79190881991909032E07234133
chr79190903491909246E07234348
chr79190932991909442E07234643
chr79190949091909548E07234804
chr79191210591912195E07237419
chr79191222491912353E07237538
chr79191242191912534E07237735
chr79191263491912707E07237948
chr79191272891912816E07238042
chr79191282191912931E07238135
chr79192240391922570E07247717
chr79192260591922655E07247919
chr79192279491923141E07248108
chr79192430591924448E07249619
chr79188309091883144E0738404
chr79188324891883425E0738562
chr79190844691908700E07333760
chr79190881991909032E07334133
chr79190903491909246E07334348
chr79192240391922570E07347717
chr79192260591922655E07347919
chr79192279491923141E07348108
chr79187324991873319E074-1367
chr79187333491873384E074-1302
chr79187340791873480E074-1206
chr79187768691877749E0743000
chr79188053091880786E0745844
chr79188122491881384E0746538
chr79188139391881522E0746707
chr79188210591882191E0747419
chr79188274691882851E0748060
chr79188309091883144E0748404
chr79188324891883425E0748562
chr79188554491885607E07410858
chr79188577291885822E07411086
chr79189814491898194E07423458
chr79190822991908279E07433543
chr79190844691908700E07433760
chr79190881991909032E07434133
chr79190903491909246E07434348
chr79190932991909442E07434643
chr79191222491912353E07437538
chr79191242191912534E07437735
chr79191263491912707E07437948
chr79191272891912816E07438042
chr79192230791922387E07447621
chr79192240391922570E07447717
chr79192260591922655E07447919
chr79192279491923141E07448108
chr79187324991873319E081-1367
chr79187333491873384E081-1302
chr79187340791873480E081-1206
chr79187768691877749E0813000
chr79187786891877976E0813182
chr79192260591922655E08147919
chr79192279491923141E08148108
chr79187768691877749E0823000
chr79187786891877976E0823182
chr79190844691908700E08233760
chr79190881991909032E08234133
chr79190903491909246E08234348
chr79192240391922570E08247717
chr79192430591924448E08249619










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79187403991876512E0670
chr79187661491876711E0671928
chr79187403991876512E0680
chr79187661491876711E0681928
chr79187403991876512E0690
chr79187661491876711E0691928
chr79187403991876512E0700
chr79187661491876711E0701928
chr79187403991876512E0710
chr79187661491876711E0711928
chr79187403991876512E0720
chr79187661491876711E0721928
chr79187403991876512E0730
chr79187661491876711E0731928
chr79187403991876512E0740
chr79187661491876711E0741928
chr79187403991876512E0810
chr79187661491876711E0811928
chr79187403991876512E0820
chr79187661491876711E0821928