rs13237260

Homo sapiens
G>T
UMAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0342 (9967/29118,TOPMED)
T=0301 (1506/5008,1000G)
T=0236 (908/3854,ALSPAC)
T=0244 (904/3708,TWINSUK)
chr7:7739460 (GRCh38.p7) (7p21.3)
AD
GWASdb2
3   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.7739460G>T
GRCh37.p13 chr 7NC_000007.13:g.7779091G>T

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=0.519T=0.481
1000GenomesAmericanSub694G=0.820T=0.180
1000GenomesEast AsianSub1008G=0.769T=0.231
1000GenomesEuropeSub1006G=0.770T=0.230
1000GenomesGlobalStudy-wide5008G=0.699T=0.301
1000GenomesSouth AsianSub978G=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.764T=0.236
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.657T=0.342
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.756T=0.244
PMID Title Author Journal
20496165Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.Monsees GMBreast Cancer Res Treat
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
20031566Association of regions on chromosomes 6 and 7 with blood pressure in Nigerian families.Tayo BOCirc Cardiovasc Genet

P-Value

SNP ID p-value Traits Study
rs132372603E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs13237260 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 rs13237260 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 )
chr777346437734777E067-44314
chr777348397735552E067-43539
chr777586617759797E067-19294
chr777729827773218E067-5873
chr778118697812485E06732778
chr778226337822784E06743542
chr777344897734539E068-44552
chr777346437734777E068-44314
chr777348397735552E068-43539
chr777356307735680E068-43411
chr777358267735897E068-43194
chr777359547736736E068-42355
chr777367747736834E068-42257
chr777721227772975E068-6116
chr777729827773218E068-5873
chr777788627778937E068-154
chr777790147779064E068-27
chr777791157779183E06824
chr777794237779761E068332
chr777910917791576E06812000
chr778234737823535E06844382
chr777344897734539E069-44552
chr777346437734777E069-44314
chr777348397735552E069-43539
chr777586617759797E069-19294
chr777729827773218E069-5873
chr777950567795106E06915965
chr777951187795200E06916027
chr778118697812485E06932778
chr778125827812631E06933491
chr778126437812769E06933552
chr777410637741133E070-37958
chr777411997741305E070-37786
chr777413627741477E070-37614
chr777435057743575E070-35516
chr777445277744716E070-34375
chr777448767745169E070-33922
chr777459617746052E070-33039
chr777463067746425E070-32666
chr777465337746623E070-32468
chr777466527746848E070-32243
chr777468987747220E070-31871
chr777480377748104E070-30987
chr777481407748271E070-30820
chr777485057748555E070-30536
chr777485817748631E070-30460
chr777487007748784E070-30307
chr777488357749367E070-29724
chr777494197749523E070-29568
chr777586617759797E070-19294
chr777599157760169E070-18922
chr777603267760493E070-18598
chr777604947760902E070-18189
chr777702287770301E070-8790
chr777711457771211E070-7880
chr777714347771686E070-7405
chr777718007771889E070-7202
chr777719257771975E070-7116
chr777861407786455E0707049
chr778036187803716E07024527
chr778037267803860E07024635
chr778078527807911E07028761
chr778079867808072E07028895
chr778081047808169E07029013
chr778094307809480E07030339
chr778096057809866E07030514
chr778099097810194E07030818
chr778104087810478E07031317
chr778105767810626E07031485
chr778118697812485E07032778
chr778125827812631E07033491
chr778126437812769E07033552
chr778130157813231E07033924
chr778132787813344E07034187
chr778134077813852E07034316
chr778263267826557E07047235
chr777346437734777E071-44314
chr777348397735552E071-43539
chr777445277744716E071-34375
chr777448767745169E071-33922
chr777457517745834E071-33257
chr777459617746052E071-33039
chr777487007748784E071-30307
chr777581847758579E071-20512
chr777720437772093E071-6998
chr777721227772975E071-6116
chr777729827773218E071-5873
chr778125827812631E07133491
chr778226337822784E07143542
chr778234737823535E07144382
chr777466527746848E072-32243
chr777468987747220E072-31871
chr777581847758579E072-20512
chr777586617759797E072-19294
chr777687527768834E072-10257
chr777688877768958E072-10133
chr777348397735552E073-43539
chr778079867808072E07328895
chr778081047808169E07329013
chr777348397735552E074-43539
chr777445277744716E074-34375
chr777463067746425E074-32666
chr777465337746623E074-32468
chr777466527746848E074-32243
chr777468987747220E074-31871
chr777586617759797E074-19294
chr777687527768834E074-10257
chr777688877768958E074-10133
chr777720437772093E074-6998
chr777721227772975E074-6116
chr777729827773218E074-5873
chr777788627778937E074-154
chr777790147779064E074-27
chr777791157779183E07424
chr777794237779761E074332
chr777952087795353E07416117
chr777956647795714E07416573
chr778118697812485E07432778
chr778125827812631E07433491
chr778126437812769E07433552
chr777463067746425E081-32666
chr777465337746623E081-32468
chr777466527746848E081-32243
chr777468987747220E081-31871
chr777463067746425E082-32666
chr777465337746623E082-32468
chr777466527746848E082-32243
chr777468987747220E082-31871
chr777474197747876E082-31215
chr777478807747985E082-31106
chr777861407786455E0827049










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr778013867802484E06722295
chr778230757823129E06743984
chr778231487823236E06744057
chr778013867802484E06822295
chr778025907802667E06823499
chr778228077822873E06843716
chr778230757823129E06843984
chr778231487823236E06844057
chr778228077822873E06943716
chr778230757823129E06943984
chr778231487823236E06944057
chr778230757823129E07043984
chr778231487823236E07044057
chr778013867802484E07122295
chr778228077822873E07143716
chr778230757823129E07143984
chr778231487823236E07144057
chr778013867802484E07222295
chr778228077822873E07243716
chr778230757823129E07243984
chr778231487823236E07244057
chr778013867802484E07322295
chr778013867802484E07422295
chr778228077822873E07443716
chr778230757823129E07443984
chr778231487823236E07444057