rs10506725

Homo sapiens
T>C
E2F7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0068 (2048/29974,GnomAD)
C=0042 (1236/29118,TOPMED)
C=0134 (670/5008,1000G)
C=0045 (173/3854,ALSPAC)
C=0044 (164/3708,TWINSUK)
chr12:77055734 (GRCh38.p7) (12q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.77055734T>C
GRCh37.p13 chr 12NC_000012.11:g.77449514T>C

Gene: E2F7, E2F transcription factor 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
E2F7 transcriptNM_203394.2:c.N/AIntron Variant
E2F7 transcript variant X1XM_011537966.2:c.N/AIntron Variant
E2F7 transcript variant X2XM_011537969.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.961C=0.039
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.762C=0.238
1000GenomesEuropeSub1006T=0.940C=0.060
1000GenomesGlobalStudy-wide5008T=0.866C=0.134
1000GenomesSouth AsianSub978T=0.720C=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.955C=0.045
The Genome Aggregation DatabaseAfricanSub8728T=0.967C=0.033
The Genome Aggregation DatabaseAmericanSub838T=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1610T=0.734C=0.266
The Genome Aggregation DatabaseEuropeSub18496T=0.932C=0.067
The Genome Aggregation DatabaseGlobalStudy-wide29974T=0.931C=0.068
The Genome Aggregation DatabaseOtherSub302T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.957C=0.042
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.956C=0.044
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
rs105067250.000924alcohol dependence21314694

eQTL of rs10506725 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 rs10506725 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 )
chr127744123077441582E067-7932
chr127744168677441823E067-7691
chr127744185577441908E067-7606
chr127744193777442068E067-7446
chr127740422277404280E068-45234
chr127744123077441582E068-7932
chr127744168677441823E068-7691
chr127744185577441908E068-7606
chr127744193777442068E068-7446
chr127744123077441582E069-7932
chr127744168677441823E069-7691
chr127740434077405061E070-44453
chr127745383977453891E0704325
chr127745389277453982E0704378
chr127746044077460597E07010926
chr127742395277423992E072-25522
chr127744123077441582E072-7932
chr127744168677441823E072-7691
chr127744185577441908E072-7606
chr127744193777442068E072-7446
chr127744231077442360E072-7154
chr127744123077441582E073-7932
chr127744168677441823E073-7691
chr127744185577441908E073-7606
chr127744193777442068E073-7446
chr127742739477427454E081-22060
chr127742752377427577E081-21937
chr127742770877427955E081-21559
chr127742800477428222E081-21292
chr127742841177428538E081-20976
chr127742905877429297E081-20217
chr127743460677434675E081-14839
chr127743592977436024E081-13490
chr127743651377436924E081-12590
chr127743715877437275E081-12239
chr127743731677437459E081-12055
chr127743750077437621E081-11893
chr127743763777437687E081-11827
chr127743796477439415E081-10099
chr127743954077439590E081-9924
chr127743959677439742E081-9772
chr127743998877440071E081-9443
chr127744123077441582E081-7932
chr127744123077441582E082-7932
chr127744168677441823E082-7691
chr127745185577451922E0822341








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr127745834477460233E0678830
chr127745834477460233E0688830
chr127745834477460233E0698830
chr127745834477460233E0708830
chr127745834477460233E0718830
chr127745834477460233E0728830
chr127745834477460233E0738830
chr127745834477460233E0748830
chr127745834477460233E0818830
chr127745834477460233E0828830