rs12740

Homo sapiens
G>A
ANKIB1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0316 (9475/29906,GnomAD)
G==0325 (9491/29118,TOPMED)
G==0287 (1438/5008,1000G)
G==0359 (1384/3854,ALSPAC)
G==0354 (1311/3708,TWINSUK)
chr7:92399988 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92399988G>A
GRCh37.p13 chr 7NC_000007.13:g.92029302G>A

Gene: ANKIB1, ankyrin repeat and IBR domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKIB1 transcriptNM_019004.1:c.N/A3 Prime UTR Variant
ANKIB1 transcript variant X2XM_011516334.1:c.N/A3 Prime UTR Variant
ANKIB1 transcript variant X1XM_005250458.3:c.N/A3 Prime UTR Variant
ANKIB1 transcript variant X3XM_011516335.2:c.N/A3 Prime UTR Variant
ANKIB1 transcript variant X5XM_017012359.1:c.N/A3 Prime UTR Variant
ANKIB1 transcript variant X6XM_017012360.1:c.N/A3 Prime UTR Variant
ANKIB1 transcript variant X4XR_927480.2:n.465...XR_927480.2:n.4651G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.284A=0.716
1000GenomesAmericanSub694G=0.340A=0.660
1000GenomesEast AsianSub1008G=0.168A=0.832
1000GenomesEuropeSub1006G=0.354A=0.646
1000GenomesGlobalStudy-wide5008G=0.287A=0.713
1000GenomesSouth AsianSub978G=0.310A=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.359A=0.641
The Genome Aggregation DatabaseAfricanSub8696G=0.299A=0.701
The Genome Aggregation DatabaseAmericanSub836G=0.300A=0.700
The Genome Aggregation DatabaseEast AsianSub1616G=0.175A=0.825
The Genome Aggregation DatabaseEuropeSub18456G=0.337A=0.662
The Genome Aggregation DatabaseGlobalStudy-wide29906G=0.316A=0.683
The Genome Aggregation DatabaseOtherSub302G=0.390A=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.325A=0.674
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.354A=0.646
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
rs127400.000241alcohol dependence21314694

eQTL of rs12740 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 rs12740 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 )
chr79199814691998518E067-30784
chr79203200592033029E0672703
chr79207844092078538E06749138
chr79207855092078697E06749248
chr79198768291987773E068-41529
chr79199621691996341E068-32961
chr79205285292052924E06823550
chr79205308092053378E06823778
chr79198778791987837E069-41465
chr79198812291988385E069-40917
chr79199463591994697E069-34605
chr79199484291994895E069-34407
chr79198768291987773E071-41529
chr79198778791987837E071-41465
chr79198812291988385E071-40917
chr79199463591994697E071-34605
chr79199717191997221E071-32081
chr79199774291997806E071-31496
chr79199814691998518E071-30784
chr79198768291987773E072-41529
chr79198778791987837E072-41465
chr79198812291988385E072-40917
chr79199463591994697E072-34605
chr79199484291994895E072-34407
chr79199717191997221E072-32081
chr79199774291997806E072-31496
chr79199814691998518E072-30784
chr79200446392004591E072-24711
chr79202887892028932E072-370
chr79203111592031204E0721813
chr79205308092053378E07223778
chr79205338792053473E07224085
chr79198768291987773E074-41529
chr79198778791987837E074-41465
chr79198812291988385E074-40917
chr79199463591994697E074-34605
chr79199484291994895E074-34407
chr79199814691998518E074-30784
chr79207844092078538E07449138
chr79207855092078697E07449248
chr79207844092078538E08249138
chr79207855092078697E08249248







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79205352692054372E06724224
chr79207636692078352E06747064
chr79205352692054372E06824224
chr79207636692078352E06847064
chr79205352692054372E06924224
chr79207636692078352E06947064
chr79205352692054372E07024224
chr79207636692078352E07047064
chr79205352692054372E07124224
chr79207636692078352E07147064
chr79205352692054372E07224224
chr79207636692078352E07247064
chr79205352692054372E07324224
chr79207636692078352E07347064
chr79205352692054372E07424224
chr79207636692078352E07447064
chr79205352692054372E08124224
chr79207636692078352E08147064
chr79205352692054372E08224224
chr79207636692078352E08247064