rs10486187

Homo sapiens
T>C
UMAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0117 (3512/29962,GnomAD)
C=0122 (3557/29118,TOPMED)
C=0122 (612/5008,1000G)
C=0101 (389/3854,ALSPAC)
C=0099 (366/3708,TWINSUK)
chr7:7739693 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
131 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.7739693T>C
GRCh37.p13 chr 7NC_000007.13:g.7779324T>C

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
1000GenomesAfricanSub1322T=0.845C=0.155
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.867C=0.133
1000GenomesEuropeSub1006T=0.905C=0.095
1000GenomesGlobalStudy-wide5008T=0.878C=0.122
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.899C=0.101
The Genome Aggregation DatabaseAfricanSub8724T=0.841C=0.159
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1610T=0.865C=0.135
The Genome Aggregation DatabaseEuropeSub18488T=0.902C=0.097
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.882C=0.117
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.877C=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.901C=0.099
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
rs104861871.1E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs10486187 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 rs10486187 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 )
chr777346437734777E067-44547
chr777348397735552E067-43772
chr777586617759797E067-19527
chr777729827773218E067-6106
chr778118697812485E06732545
chr778226337822784E06743309
chr777344897734539E068-44785
chr777346437734777E068-44547
chr777348397735552E068-43772
chr777356307735680E068-43644
chr777358267735897E068-43427
chr777359547736736E068-42588
chr777367747736834E068-42490
chr777721227772975E068-6349
chr777729827773218E068-6106
chr777788627778937E068-387
chr777790147779064E068-260
chr777791157779183E068-141
chr777794237779761E06899
chr777910917791576E06811767
chr778234737823535E06844149
chr777344897734539E069-44785
chr777346437734777E069-44547
chr777348397735552E069-43772
chr777586617759797E069-19527
chr777729827773218E069-6106
chr777950567795106E06915732
chr777951187795200E06915794
chr778118697812485E06932545
chr778125827812631E06933258
chr778126437812769E06933319
chr777410637741133E070-38191
chr777411997741305E070-38019
chr777413627741477E070-37847
chr777435057743575E070-35749
chr777445277744716E070-34608
chr777448767745169E070-34155
chr777459617746052E070-33272
chr777463067746425E070-32899
chr777465337746623E070-32701
chr777466527746848E070-32476
chr777468987747220E070-32104
chr777480377748104E070-31220
chr777481407748271E070-31053
chr777485057748555E070-30769
chr777485817748631E070-30693
chr777487007748784E070-30540
chr777488357749367E070-29957
chr777494197749523E070-29801
chr777586617759797E070-19527
chr777599157760169E070-19155
chr777603267760493E070-18831
chr777604947760902E070-18422
chr777702287770301E070-9023
chr777711457771211E070-8113
chr777714347771686E070-7638
chr777718007771889E070-7435
chr777719257771975E070-7349
chr777861407786455E0706816
chr778036187803716E07024294
chr778037267803860E07024402
chr778078527807911E07028528
chr778079867808072E07028662
chr778081047808169E07028780
chr778094307809480E07030106
chr778096057809866E07030281
chr778099097810194E07030585
chr778104087810478E07031084
chr778105767810626E07031252
chr778118697812485E07032545
chr778125827812631E07033258
chr778126437812769E07033319
chr778130157813231E07033691
chr778132787813344E07033954
chr778134077813852E07034083
chr778263267826557E07047002
chr777346437734777E071-44547
chr777348397735552E071-43772
chr777445277744716E071-34608
chr777448767745169E071-34155
chr777457517745834E071-33490
chr777459617746052E071-33272
chr777487007748784E071-30540
chr777581847758579E071-20745
chr777720437772093E071-7231
chr777721227772975E071-6349
chr777729827773218E071-6106
chr778125827812631E07133258
chr778226337822784E07143309
chr778234737823535E07144149
chr777466527746848E072-32476
chr777468987747220E072-32104
chr777581847758579E072-20745
chr777586617759797E072-19527
chr777687527768834E072-10490
chr777688877768958E072-10366
chr777348397735552E073-43772
chr778079867808072E07328662
chr778081047808169E07328780
chr777348397735552E074-43772
chr777445277744716E074-34608
chr777463067746425E074-32899
chr777465337746623E074-32701
chr777466527746848E074-32476
chr777468987747220E074-32104
chr777586617759797E074-19527
chr777687527768834E074-10490
chr777688877768958E074-10366
chr777720437772093E074-7231
chr777721227772975E074-6349
chr777729827773218E074-6106
chr777788627778937E074-387
chr777790147779064E074-260
chr777791157779183E074-141
chr777794237779761E07499
chr777952087795353E07415884
chr777956647795714E07416340
chr778118697812485E07432545
chr778125827812631E07433258
chr778126437812769E07433319
chr777463067746425E081-32899
chr777465337746623E081-32701
chr777466527746848E081-32476
chr777468987747220E081-32104
chr777463067746425E082-32899
chr777465337746623E082-32701
chr777466527746848E082-32476
chr777468987747220E082-32104
chr777474197747876E082-31448
chr777478807747985E082-31339
chr777861407786455E0826816










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr778013867802484E06722062
chr778230757823129E06743751
chr778231487823236E06743824
chr778013867802484E06822062
chr778025907802667E06823266
chr778228077822873E06843483
chr778230757823129E06843751
chr778231487823236E06843824
chr778228077822873E06943483
chr778230757823129E06943751
chr778231487823236E06943824
chr778230757823129E07043751
chr778231487823236E07043824
chr778013867802484E07122062
chr778228077822873E07143483
chr778230757823129E07143751
chr778231487823236E07143824
chr778013867802484E07222062
chr778228077822873E07243483
chr778230757823129E07243751
chr778231487823236E07243824
chr778013867802484E07322062
chr778013867802484E07422062
chr778228077822873E07443483
chr778230757823129E07443751
chr778231487823236E07443824