rs4720751

Homo sapiens
G>A
UMAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0298 (8924/29930,GnomAD)
A=0325 (9476/29118,TOPMED)
A=0293 (1469/5008,1000G)
A=0255 (983/3854,ALSPAC)
A=0267 (991/3708,TWINSUK)
chr7:7729732 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
169 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.7729732G>A
GRCh37.p13 chr 7NC_000007.13:g.7769363G>A

Gene: UMAD1, UBAP1-MVB12-associated (UMA) domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UMAD1 transcript variant 1NM_001302348.1:c.N/AIntron Variant
UMAD1 transcript variant 2NM_001302349.1:c.N/AIntron Variant
UMAD1 transcript variant 3NM_001302350.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.579A=0.421
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.762A=0.238
1000GenomesEuropeSub1006G=0.748A=0.252
1000GenomesGlobalStudy-wide5008G=0.707A=0.293
1000GenomesSouth AsianSub978G=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.745A=0.255
The Genome Aggregation DatabaseAfricanSub8704G=0.595A=0.405
The Genome Aggregation DatabaseAmericanSub838G=0.780A=0.220
The Genome Aggregation DatabaseEast AsianSub1612G=0.753A=0.247
The Genome Aggregation DatabaseEuropeSub18474G=0.742A=0.257
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.701A=0.298
The Genome Aggregation DatabaseOtherSub302G=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.674A=0.325
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.733A=0.267
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs47207510.00012alcohol consumption (maxi-drinks)24277619

eQTL of rs4720751 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 rs4720751 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 )
chr777207277721611E067-47752
chr777216377721766E067-47597
chr777218167721891E067-47472
chr777221267722186E067-47177
chr777221897722286E067-47077
chr777223157722511E067-46852
chr777225477722822E067-46541
chr777229417723021E067-46342
chr777346437734777E067-34586
chr777348397735552E067-33811
chr777586617759797E067-9566
chr777729827773218E0673619
chr778118697812485E06742506
chr777207277721611E068-47752
chr777216377721766E068-47597
chr777218167721891E068-47472
chr777221267722186E068-47177
chr777221897722286E068-47077
chr777223157722511E068-46852
chr777225477722822E068-46541
chr777229417723021E068-46342
chr777262127727299E068-42064
chr777344897734539E068-34824
chr777346437734777E068-34586
chr777348397735552E068-33811
chr777356307735680E068-33683
chr777358267735897E068-33466
chr777359547736736E068-32627
chr777367747736834E068-32529
chr777721227772975E0682759
chr777729827773218E0683619
chr777788627778937E0689499
chr777790147779064E0689651
chr777791157779183E0689752
chr777794237779761E06810060
chr777910917791576E06821728
chr777207277721611E069-47752
chr777216377721766E069-47597
chr777344897734539E069-34824
chr777346437734777E069-34586
chr777348397735552E069-33811
chr777586617759797E069-9566
chr777729827773218E0693619
chr777950567795106E06925693
chr777951187795200E06925755
chr778118697812485E06942506
chr778125827812631E06943219
chr778126437812769E06943280
chr777275017727699E070-41664
chr777410637741133E070-28230
chr777411997741305E070-28058
chr777413627741477E070-27886
chr777435057743575E070-25788
chr777445277744716E070-24647
chr777448767745169E070-24194
chr777459617746052E070-23311
chr777463067746425E070-22938
chr777465337746623E070-22740
chr777466527746848E070-22515
chr777468987747220E070-22143
chr777480377748104E070-21259
chr777481407748271E070-21092
chr777485057748555E070-20808
chr777485817748631E070-20732
chr777487007748784E070-20579
chr777488357749367E070-19996
chr777494197749523E070-19840
chr777586617759797E070-9566
chr777599157760169E070-9194
chr777603267760493E070-8870
chr777604947760902E070-8461
chr777702287770301E070865
chr777711457771211E0701782
chr777714347771686E0702071
chr777718007771889E0702437
chr777719257771975E0702562
chr777861407786455E07016777
chr778036187803716E07034255
chr778037267803860E07034363
chr778078527807911E07038489
chr778079867808072E07038623
chr778081047808169E07038741
chr778094307809480E07040067
chr778096057809866E07040242
chr778099097810194E07040546
chr778104087810478E07041045
chr778105767810626E07041213
chr778118697812485E07042506
chr778125827812631E07043219
chr778126437812769E07043280
chr778130157813231E07043652
chr778132787813344E07043915
chr778134077813852E07044044
chr777207277721611E071-47752
chr777216377721766E071-47597
chr777218167721891E071-47472
chr777225477722822E071-46541
chr777229417723021E071-46342
chr777346437734777E071-34586
chr777348397735552E071-33811
chr777445277744716E071-24647
chr777448767745169E071-24194
chr777457517745834E071-23529
chr777459617746052E071-23311
chr777487007748784E071-20579
chr777581847758579E071-10784
chr777720437772093E0712680
chr777721227772975E0712759
chr777729827773218E0713619
chr778125827812631E07143219
chr777223157722511E072-46852
chr777225477722822E072-46541
chr777262127727299E072-42064
chr777466527746848E072-22515
chr777468987747220E072-22143
chr777581847758579E072-10784
chr777586617759797E072-9566
chr777687527768834E072-529
chr777688877768958E072-405
chr777207277721611E073-47752
chr777216377721766E073-47597
chr777262127727299E073-42064
chr777275017727699E073-41664
chr777277237727992E073-41371
chr777348397735552E073-33811
chr778079867808072E07338623
chr778081047808169E07338741
chr777193667719679E074-49684
chr777205217720654E074-48709
chr777207277721611E074-47752
chr777216377721766E074-47597
chr777218167721891E074-47472
chr777225477722822E074-46541
chr777348397735552E074-33811
chr777445277744716E074-24647
chr777463067746425E074-22938
chr777465337746623E074-22740
chr777466527746848E074-22515
chr777468987747220E074-22143
chr777586617759797E074-9566
chr777687527768834E074-529
chr777688877768958E074-405
chr777720437772093E0742680
chr777721227772975E0742759
chr777729827773218E0743619
chr777788627778937E0749499
chr777790147779064E0749651
chr777791157779183E0749752
chr777794237779761E07410060
chr777952087795353E07425845
chr777956647795714E07426301
chr778118697812485E07442506
chr778125827812631E07443219
chr778126437812769E07443280
chr777225477722822E081-46541
chr777229417723021E081-46342
chr777463067746425E081-22938
chr777465337746623E081-22740
chr777466527746848E081-22515
chr777468987747220E081-22143
chr777223157722511E082-46852
chr777225477722822E082-46541
chr777463067746425E082-22938
chr777465337746623E082-22740
chr777466527746848E082-22515
chr777468987747220E082-22143
chr777474197747876E082-21487
chr777478807747985E082-21378
chr777861407786455E08216777










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr778013867802484E06732023
chr778013867802484E06832023
chr778025907802667E06833227
chr778013867802484E07132023
chr778013867802484E07232023
chr778013867802484E07332023
chr778013867802484E07432023