rs3952738

Homo sapiens
T>C
MB21D2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0476 (14255/29948,GnomAD)
T==0496 (14466/29118,TOPMED)
C=0492 (2466/5008,1000G)
T==0491 (1892/3854,ALSPAC)
T==0488 (1811/3708,TWINSUK)
chr3:192896694 (GRCh38.p7) (3q29)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.192896694T>C
GRCh37.p13 chr 3NC_000003.11:g.192614483T>C

Gene: MB21D2, Mab-21 domain containing 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MB21D2 transcriptNM_178496.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.483C=0.517
1000GenomesAmericanSub694T=0.450C=0.550
1000GenomesEast AsianSub1008T=0.668C=0.332
1000GenomesEuropeSub1006T=0.476C=0.524
1000GenomesGlobalStudy-wide5008T=0.508C=0.492
1000GenomesSouth AsianSub978T=0.450C=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.491C=0.509
The Genome Aggregation DatabaseAfricanSub8714T=0.495C=0.505
The Genome Aggregation DatabaseAmericanSub838T=0.370C=0.630
The Genome Aggregation DatabaseEast AsianSub1612T=0.696C=0.304
The Genome Aggregation DatabaseEuropeSub18482T=0.451C=0.548
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.476C=0.524
The Genome Aggregation DatabaseOtherSub302T=0.530C=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.496C=0.503
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.488C=0.512
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs39527380.000019alcohol dependence20201924
rs39527380.0000194alcoholismpha002892

eQTL of rs3952738 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 rs3952738 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 )
chr3192575065192575337E067-39146
chr3192575418192575591E067-38892
chr3192576856192576934E067-37549
chr3192632576192633097E06718093
chr3192633135192633436E06718652
chr3192636682192636784E06722199
chr3192636985192637035E06722502
chr3192569598192570301E068-44182
chr3192632576192633097E06818093
chr3192633135192633436E06818652
chr3192574807192574865E069-39618
chr3192575065192575337E069-39146
chr3192622373192622457E0697890
chr3192622458192623020E0697975
chr3192636682192636784E06922199
chr3192565494192565584E070-48899
chr3192565734192566109E070-48374
chr3192566274192566466E070-48017
chr3192575065192575337E070-39146
chr3192584720192584862E070-29621
chr3192584884192584966E070-29517
chr3192585040192585191E070-29292
chr3192585316192585433E070-29050
chr3192585536192585731E070-28752
chr3192610688192611529E070-2954
chr3192611676192611794E070-2689
chr3192611948192612035E070-2448
chr3192612199192612264E070-2219
chr3192622373192622457E0707890
chr3192622458192623020E0707975
chr3192623923192624094E0709440
chr3192624214192624339E0709731
chr3192624407192624498E0709924
chr3192624539192624663E07010056
chr3192624691192625188E07010208
chr3192625264192625347E07010781
chr3192632017192632219E07017534
chr3192632272192632329E07017789
chr3192632359192632458E07017876
chr3192569096192569192E071-45291
chr3192569598192570301E071-44182
chr3192587198192587486E071-26997
chr3192587554192587604E071-26879
chr3192587648192587723E071-26760
chr3192622373192622457E0717890
chr3192622458192623020E0717975
chr3192632359192632458E07117876
chr3192632576192633097E07118093
chr3192633135192633436E07118652
chr3192636682192636784E07122199
chr3192636985192637035E07122502
chr3192569598192570301E072-44182
chr3192576856192576934E072-37549
chr3192622373192622457E0727890
chr3192622458192623020E0727975
chr3192632359192632458E07217876
chr3192632576192633097E07218093
chr3192636682192636784E07222199
chr3192639723192639850E07225240
chr3192639872192639995E07225389
chr3192569598192570301E073-44182
chr3192587554192587604E073-26879
chr3192587648192587723E073-26760
chr3192632359192632458E07317876
chr3192632576192633097E07318093
chr3192636682192636784E07322199
chr3192636985192637035E07322502
chr3192569598192570301E074-44182
chr3192574807192574865E074-39618
chr3192575065192575337E074-39146
chr3192622458192623020E0747975
chr3192633135192633436E07418652
chr3192636682192636784E07422199
chr3192565494192565584E081-48899
chr3192565734192566109E081-48374
chr3192566274192566466E081-48017
chr3192566658192567001E081-47482
chr3192568087192568880E081-45603
chr3192575065192575337E081-39146
chr3192575418192575591E081-38892
chr3192576685192576761E081-37722
chr3192576797192576847E081-37636
chr3192576856192576934E081-37549
chr3192577042192577102E081-37381
chr3192577120192577215E081-37268
chr3192577954192578004E081-36479
chr3192578280192578605E081-35878
chr3192578786192578905E081-35578
chr3192579717192579767E081-34716
chr3192579921192580086E081-34397
chr3192584720192584862E081-29621
chr3192584884192584966E081-29517
chr3192585040192585191E081-29292
chr3192585316192585433E081-29050
chr3192587198192587486E081-26997
chr3192622373192622457E0817890
chr3192622458192623020E0817975
chr3192623923192624094E0819440
chr3192624214192624339E0819731
chr3192624407192624498E0819924
chr3192624539192624663E08110056
chr3192624691192625188E08110208
chr3192625264192625347E08110781
chr3192625591192626089E08111108
chr3192630529192630643E08116046
chr3192632017192632219E08117534
chr3192632272192632329E08117789
chr3192633135192633436E08118652
chr3192565494192565584E082-48899
chr3192565734192566109E082-48374
chr3192566274192566466E082-48017
chr3192566658192567001E082-47482
chr3192577042192577102E082-37381
chr3192577120192577215E082-37268
chr3192577954192578004E082-36479
chr3192578280192578605E082-35878
chr3192578786192578905E082-35578
chr3192579717192579767E082-34716
chr3192579921192580086E082-34397
chr3192584720192584862E082-29621
chr3192584884192584966E082-29517
chr3192610688192611529E082-2954
chr3192622373192622457E0827890
chr3192622458192623020E0827975
chr3192630529192630643E08216046
chr3192631566192631636E08217083










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3192633990192636323E06719507
chr3192636395192636441E06721912
chr3192633990192636323E06819507
chr3192636395192636441E06821912
chr3192633990192636323E06919507
chr3192636395192636441E06921912
chr3192633990192636323E07019507
chr3192636395192636441E07021912
chr3192633990192636323E07119507
chr3192636395192636441E07121912
chr3192633990192636323E07219507
chr3192636395192636441E07221912
chr3192633990192636323E07319507
chr3192636395192636441E07321912
chr3192633990192636323E07419507
chr3192636395192636441E07421912
chr3192633990192636323E08119507
chr3192636395192636441E08121912
chr3192633990192636323E08219507
chr3192636395192636441E08221912