rs4455277

Homo sapiens
T>C
MB21D2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0476 (14224/29878,GnomAD)
T==0496 (14464/29118,TOPMED)
C=0492 (2466/5008,1000G)
T==0491 (1893/3854,ALSPAC)
T==0489 (1814/3708,TWINSUK)
chr3:192896519 (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.192896519T>C
GRCh37.p13 chr 3NC_000003.11:g.192614308T>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 DatabaseAfricanSub8684T=0.495C=0.505
The Genome Aggregation DatabaseAmericanSub836T=0.370C=0.630
The Genome Aggregation DatabaseEast AsianSub1608T=0.696C=0.304
The Genome Aggregation DatabaseEuropeSub18450T=0.451C=0.548
The Genome Aggregation DatabaseGlobalStudy-wide29878T=0.476C=0.523
The Genome Aggregation DatabaseOtherSub300T=0.530C=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.496C=0.503
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.489C=0.511
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
rs44552770.000019alcohol dependence20201924
rs44552770.0000194alcoholismpha002892

eQTL of rs4455277 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 rs4455277 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 )
chr3192575065192575337E067-38971
chr3192575418192575591E067-38717
chr3192576856192576934E067-37374
chr3192632576192633097E06718268
chr3192633135192633436E06718827
chr3192636682192636784E06722374
chr3192636985192637035E06722677
chr3192569598192570301E068-44007
chr3192632576192633097E06818268
chr3192633135192633436E06818827
chr3192574807192574865E069-39443
chr3192575065192575337E069-38971
chr3192622373192622457E0698065
chr3192622458192623020E0698150
chr3192636682192636784E06922374
chr3192565494192565584E070-48724
chr3192565734192566109E070-48199
chr3192566274192566466E070-47842
chr3192575065192575337E070-38971
chr3192584720192584862E070-29446
chr3192584884192584966E070-29342
chr3192585040192585191E070-29117
chr3192585316192585433E070-28875
chr3192585536192585731E070-28577
chr3192610688192611529E070-2779
chr3192611676192611794E070-2514
chr3192611948192612035E070-2273
chr3192612199192612264E070-2044
chr3192622373192622457E0708065
chr3192622458192623020E0708150
chr3192623923192624094E0709615
chr3192624214192624339E0709906
chr3192624407192624498E07010099
chr3192624539192624663E07010231
chr3192624691192625188E07010383
chr3192625264192625347E07010956
chr3192632017192632219E07017709
chr3192632272192632329E07017964
chr3192632359192632458E07018051
chr3192569096192569192E071-45116
chr3192569598192570301E071-44007
chr3192587198192587486E071-26822
chr3192587554192587604E071-26704
chr3192587648192587723E071-26585
chr3192622373192622457E0718065
chr3192622458192623020E0718150
chr3192632359192632458E07118051
chr3192632576192633097E07118268
chr3192633135192633436E07118827
chr3192636682192636784E07122374
chr3192636985192637035E07122677
chr3192569598192570301E072-44007
chr3192576856192576934E072-37374
chr3192622373192622457E0728065
chr3192622458192623020E0728150
chr3192632359192632458E07218051
chr3192632576192633097E07218268
chr3192636682192636784E07222374
chr3192639723192639850E07225415
chr3192639872192639995E07225564
chr3192569598192570301E073-44007
chr3192587554192587604E073-26704
chr3192587648192587723E073-26585
chr3192632359192632458E07318051
chr3192632576192633097E07318268
chr3192636682192636784E07322374
chr3192636985192637035E07322677
chr3192569598192570301E074-44007
chr3192574807192574865E074-39443
chr3192575065192575337E074-38971
chr3192622458192623020E0748150
chr3192633135192633436E07418827
chr3192636682192636784E07422374
chr3192565494192565584E081-48724
chr3192565734192566109E081-48199
chr3192566274192566466E081-47842
chr3192566658192567001E081-47307
chr3192568087192568880E081-45428
chr3192575065192575337E081-38971
chr3192575418192575591E081-38717
chr3192576685192576761E081-37547
chr3192576797192576847E081-37461
chr3192576856192576934E081-37374
chr3192577042192577102E081-37206
chr3192577120192577215E081-37093
chr3192577954192578004E081-36304
chr3192578280192578605E081-35703
chr3192578786192578905E081-35403
chr3192579717192579767E081-34541
chr3192579921192580086E081-34222
chr3192584720192584862E081-29446
chr3192584884192584966E081-29342
chr3192585040192585191E081-29117
chr3192585316192585433E081-28875
chr3192587198192587486E081-26822
chr3192622373192622457E0818065
chr3192622458192623020E0818150
chr3192623923192624094E0819615
chr3192624214192624339E0819906
chr3192624407192624498E08110099
chr3192624539192624663E08110231
chr3192624691192625188E08110383
chr3192625264192625347E08110956
chr3192625591192626089E08111283
chr3192630529192630643E08116221
chr3192632017192632219E08117709
chr3192632272192632329E08117964
chr3192633135192633436E08118827
chr3192565494192565584E082-48724
chr3192565734192566109E082-48199
chr3192566274192566466E082-47842
chr3192566658192567001E082-47307
chr3192577042192577102E082-37206
chr3192577120192577215E082-37093
chr3192577954192578004E082-36304
chr3192578280192578605E082-35703
chr3192578786192578905E082-35403
chr3192579717192579767E082-34541
chr3192579921192580086E082-34222
chr3192584720192584862E082-29446
chr3192584884192584966E082-29342
chr3192610688192611529E082-2779
chr3192622373192622457E0828065
chr3192622458192623020E0828150
chr3192630529192630643E08216221
chr3192631566192631636E08217258










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3192633990192636323E06719682
chr3192636395192636441E06722087
chr3192633990192636323E06819682
chr3192636395192636441E06822087
chr3192633990192636323E06919682
chr3192636395192636441E06922087
chr3192633990192636323E07019682
chr3192636395192636441E07022087
chr3192633990192636323E07119682
chr3192636395192636441E07122087
chr3192633990192636323E07219682
chr3192636395192636441E07222087
chr3192633990192636323E07319682
chr3192636395192636441E07322087
chr3192633990192636323E07419682
chr3192636395192636441E07422087
chr3192633990192636323E08119682
chr3192636395192636441E08122087
chr3192633990192636323E08219682
chr3192636395192636441E08222087