rs7643379

Homo sapiens
A>G
MB21D2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0463 (13840/29870,GnomAD)
A==0486 (14161/29118,TOPMED)
A==0500 (2504/5008,1000G)
G=0500 (2504/5008,1000G)
A==0468 (1804/3854,ALSPAC)
A==0470 (1744/3708,TWINSUK)
chr3:192901594 (GRCh38.p7) (3q29)
AD
GWASdb2
1   publication(s)
See rs on genome
113 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.192901594A>G
GRCh37.p13 chr 3NC_000003.11:g.192619383A>G

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
1000GenomesAfricanSub1322A=0.483G=0.517
1000GenomesAmericanSub694A=0.420G=0.580
1000GenomesEast AsianSub1008A=0.669G=0.331
1000GenomesEuropeSub1006A=0.453G=0.547
1000GenomesGlobalStudy-wide5008A=0.500G=0.500
1000GenomesSouth AsianSub978A=0.450G=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.468G=0.532
The Genome Aggregation DatabaseAfricanSub8678A=0.491G=0.509
The Genome Aggregation DatabaseAmericanSub832A=0.360G=0.640
The Genome Aggregation DatabaseEast AsianSub1608A=0.698G=0.302
The Genome Aggregation DatabaseEuropeSub18452A=0.433G=0.566
The Genome Aggregation DatabaseGlobalStudy-wide29870A=0.463G=0.536
The Genome Aggregation DatabaseOtherSub300A=0.520G=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.486G=0.513
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.470G=0.530
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
rs76433790.0000052alcohol dependence20201924
rs76433790.00000525alcoholismpha002892

eQTL of rs7643379 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 rs7643379 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 )
chr3192575065192575337E067-44046
chr3192575418192575591E067-43792
chr3192576856192576934E067-42449
chr3192632576192633097E06713193
chr3192633135192633436E06713752
chr3192636682192636784E06717299
chr3192636985192637035E06717602
chr3192569598192570301E068-49082
chr3192632576192633097E06813193
chr3192633135192633436E06813752
chr3192574807192574865E069-44518
chr3192575065192575337E069-44046
chr3192622373192622457E0692990
chr3192622458192623020E0693075
chr3192636682192636784E06917299
chr3192575065192575337E070-44046
chr3192584720192584862E070-34521
chr3192584884192584966E070-34417
chr3192585040192585191E070-34192
chr3192585316192585433E070-33950
chr3192585536192585731E070-33652
chr3192610688192611529E070-7854
chr3192611676192611794E070-7589
chr3192611948192612035E070-7348
chr3192612199192612264E070-7119
chr3192622373192622457E0702990
chr3192622458192623020E0703075
chr3192623923192624094E0704540
chr3192624214192624339E0704831
chr3192624407192624498E0705024
chr3192624539192624663E0705156
chr3192624691192625188E0705308
chr3192625264192625347E0705881
chr3192632017192632219E07012634
chr3192632272192632329E07012889
chr3192632359192632458E07012976
chr3192569598192570301E071-49082
chr3192587198192587486E071-31897
chr3192587554192587604E071-31779
chr3192587648192587723E071-31660
chr3192622373192622457E0712990
chr3192622458192623020E0713075
chr3192632359192632458E07112976
chr3192632576192633097E07113193
chr3192633135192633436E07113752
chr3192636682192636784E07117299
chr3192636985192637035E07117602
chr3192569598192570301E072-49082
chr3192576856192576934E072-42449
chr3192622373192622457E0722990
chr3192622458192623020E0723075
chr3192632359192632458E07212976
chr3192632576192633097E07213193
chr3192636682192636784E07217299
chr3192639723192639850E07220340
chr3192639872192639995E07220489
chr3192569598192570301E073-49082
chr3192587554192587604E073-31779
chr3192587648192587723E073-31660
chr3192632359192632458E07312976
chr3192632576192633097E07313193
chr3192636682192636784E07317299
chr3192636985192637035E07317602
chr3192569598192570301E074-49082
chr3192574807192574865E074-44518
chr3192575065192575337E074-44046
chr3192622458192623020E0743075
chr3192633135192633436E07413752
chr3192636682192636784E07417299
chr3192575065192575337E081-44046
chr3192575418192575591E081-43792
chr3192576685192576761E081-42622
chr3192576797192576847E081-42536
chr3192576856192576934E081-42449
chr3192577042192577102E081-42281
chr3192577120192577215E081-42168
chr3192577954192578004E081-41379
chr3192578280192578605E081-40778
chr3192578786192578905E081-40478
chr3192579717192579767E081-39616
chr3192579921192580086E081-39297
chr3192584720192584862E081-34521
chr3192584884192584966E081-34417
chr3192585040192585191E081-34192
chr3192585316192585433E081-33950
chr3192587198192587486E081-31897
chr3192622373192622457E0812990
chr3192622458192623020E0813075
chr3192623923192624094E0814540
chr3192624214192624339E0814831
chr3192624407192624498E0815024
chr3192624539192624663E0815156
chr3192624691192625188E0815308
chr3192625264192625347E0815881
chr3192625591192626089E0816208
chr3192630529192630643E08111146
chr3192632017192632219E08112634
chr3192632272192632329E08112889
chr3192633135192633436E08113752
chr3192577042192577102E082-42281
chr3192577120192577215E082-42168
chr3192577954192578004E082-41379
chr3192578280192578605E082-40778
chr3192578786192578905E082-40478
chr3192579717192579767E082-39616
chr3192579921192580086E082-39297
chr3192584720192584862E082-34521
chr3192584884192584966E082-34417
chr3192610688192611529E082-7854
chr3192622373192622457E0822990
chr3192622458192623020E0823075
chr3192630529192630643E08211146
chr3192631566192631636E08212183










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3192633990192636323E06714607
chr3192636395192636441E06717012
chr3192633990192636323E06814607
chr3192636395192636441E06817012
chr3192633990192636323E06914607
chr3192636395192636441E06917012
chr3192633990192636323E07014607
chr3192636395192636441E07017012
chr3192633990192636323E07114607
chr3192636395192636441E07117012
chr3192633990192636323E07214607
chr3192636395192636441E07217012
chr3192633990192636323E07314607
chr3192636395192636441E07317012
chr3192633990192636323E07414607
chr3192636395192636441E07417012
chr3192633990192636323E08114607
chr3192636395192636441E08117012
chr3192633990192636323E08214607
chr3192636395192636441E08217012