rs25992

Homo sapiens
C>A / C>G / C>T
OTULIN : Intron Variant
ANKH : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0058 (1743/29966,GnomAD)
C==0052 (1520/29118,TOPMED)
C==0079 (397/5008,1000G)
C==0071 (274/3854,ALSPAC)
C==0070 (261/3708,TWINSUK)
chr5:14707491 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
284 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.14707491C>A
GRCh38.p7 chr 5NC_000005.10:g.14707491C>G
GRCh38.p7 chr 5NC_000005.10:g.14707491C>T
GRCh37.p13 chr 5NC_000005.9:g.14707600C>A
GRCh37.p13 chr 5NC_000005.9:g.14707600C>G
GRCh37.p13 chr 5NC_000005.9:g.14707600C>T
ANKH RefSeqGeneNG_008273.1:g.169288G>T
ANKH RefSeqGeneNG_008273.1:g.169288G>C
ANKH RefSeqGeneNG_008273.1:g.169288G>A

Gene: ANKH, ANKH inorganic pyrophosphate transport regulator(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKH transcriptNM_054027.4:c.N/A3 Prime UTR Variant
ANKH transcript variant X1XM_017009644.1:c.N/A3 Prime UTR Variant
ANKH transcript variant X2XM_011514067.1:c.N/AGenic Downstream Transcript Variant

Gene: OTULIN, OTU deubiquitinase with linear linkage specificity(plus strand)

Molecule type Change Amino acid[Codon] SO Term
OTULIN transcriptNM_138348.4:c.N/AGenic Downstream Transcript Variant
OTULIN transcript variant X1XM_011514151.2:c.N/AIntron Variant
OTULIN transcript variant X2XM_011514152.2:c.N/AIntron Variant
OTULIN transcript variant X4XM_011514154.2:c.N/AGenic Downstream Transcript Variant
OTULIN transcript variant X3XM_017010015.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.005T=0.995
1000GenomesAmericanSub694C=0.030T=0.970
1000GenomesEast AsianSub1008C=0.210T=0.790
1000GenomesEuropeSub1006C=0.072T=0.928
1000GenomesGlobalStudy-wide5008C=0.079T=0.921
1000GenomesSouth AsianSub978C=0.090T=0.910
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.071T=0.929
The Genome Aggregation DatabaseAfricanSub8724C=0.012T=0.988
The Genome Aggregation DatabaseAmericanSub838C=0.030T=0.970
The Genome Aggregation DatabaseEast AsianSub1620C=0.201T=0.799
The Genome Aggregation DatabaseEuropeSub18482C=0.068T=0.931
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.058T=0.941
The Genome Aggregation DatabaseOtherSub302C=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.052T=0.947
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.070T=0.930
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
rs259920.000724alcohol consumption (maxi-drinks)24277619

eQTL of rs25992 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 rs25992 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 )
chr51466349414663534E067-31713
chr51467149614671593E067-23654
chr51467163114671830E067-23417
chr51467211514672165E067-23082
chr51467221514672344E067-22903
chr51467242614672531E067-22716
chr51467278614672888E067-22359
chr51467294114673037E067-22210
chr51467309214673189E067-22058
chr51468399814684132E067-11115
chr51468422014684542E067-10705
chr51468458514685326E067-9921
chr51468554714685601E067-9646
chr51468572114685799E067-9448
chr51468580414686274E067-8973
chr51470675614707042E06711509
chr51470710514707507E06711858
chr51470802214708102E06712775
chr51470820114708352E06712954
chr51472618514726246E06730938
chr51472625014726485E06731003
chr51472667114726820E06731424
chr51472699514727092E06731748
chr51472739814729064E06732151
chr51473078914730851E06735542
chr51473190014732026E06736653
chr51473207714732347E06736830
chr51473587314735923E06740626
chr51473603914736089E06740792
chr51473728714737337E06742040
chr51473749314737635E06742246
chr51473775414737804E06742507
chr51473782314737878E06742576
chr51473803214738555E06742785
chr51466349414663534E068-31713
chr51466669014666757E068-28490
chr51467242614672531E068-22716
chr51467278614672888E068-22359
chr51467294114673037E068-22210
chr51467553014675732E068-19515
chr51468580414686274E068-8973
chr51469793714698000E0682690
chr51470044814700522E0685201
chr51470082014700963E0685573
chr51470129214701427E0686045
chr51470193114701993E0686684
chr51470675614707042E06811509
chr51470710514707507E06811858
chr51470802214708102E06812775
chr51470820114708352E06812954
chr51472485414725026E06829607
chr51472618514726246E06830938
chr51472625014726485E06831003
chr51472667114726820E06831424
chr51472699514727092E06831748
chr51472739814729064E06832151
chr51472960714729698E06834360
chr51472982614729896E06834579
chr51472992214729979E06834675
chr51473001114730061E06834764
chr51473616714736264E06840920
chr51473659114736645E06841344
chr51473728714737337E06842040
chr51473749314737635E06842246
chr51473775414737804E06842507
chr51474419814744398E06848951
chr51474440214744583E06849155
chr51466349414663534E069-31713
chr51466656814666638E069-28609
chr51466669014666757E069-28490
chr51468422014684542E069-10705
chr51468458514685326E069-9921
chr51468554714685601E069-9646
chr51468572114685799E069-9448
chr51468580414686274E069-8973
chr51470002514700307E0694778
chr51470044814700522E0695201
chr51470082014700963E0695573
chr51470675614707042E06911509
chr51470710514707507E06911858
chr51470802214708102E06912775
chr51470820114708352E06912954
chr51472485414725026E06929607
chr51472564514725699E06930398
chr51472618514726246E06930938
chr51472625014726485E06931003
chr51472667114726820E06931424
chr51472699514727092E06931748
chr51472739814729064E06932151
chr51472960714729698E06934360
chr51472982614729896E06934579
chr51472992214729979E06934675
chr51473001114730061E06934764
chr51473587314735923E06940626
chr51473603914736089E06940792
chr51473616714736264E06940920
chr51473659114736645E06941344
chr51473728714737337E06942040
chr51473749314737635E06942246
chr51473775414737804E06942507
chr51473782314737878E06942576
chr51473803214738555E06942785
chr51474194714742439E06946700
chr51474373514744160E06948488
chr51474419814744398E06948951
chr51474440214744583E06949155
chr51466349414663534E070-31713
chr51466656814666638E070-28609
chr51471478414715029E07019537
chr51472739814729064E07032151
chr51474194714742439E07046700
chr51474419814744398E07048951
chr51474440214744583E07049155
chr51466349414663534E071-31713
chr51466656814666638E071-28609
chr51466669014666757E071-28490
chr51467149614671593E071-23654
chr51467163114671830E071-23417
chr51467211514672165E071-23082
chr51467221514672344E071-22903
chr51468399814684132E071-11115
chr51468422014684542E071-10705
chr51468458514685326E071-9921
chr51468572114685799E071-9448
chr51468580414686274E071-8973
chr51470002514700307E0714778
chr51470044814700522E0715201
chr51470082014700963E0715573
chr51470675614707042E07111509
chr51470710514707507E07111858
chr51472485414725026E07129607
chr51472564514725699E07130398
chr51472618514726246E07130938
chr51472625014726485E07131003
chr51472667114726820E07131424
chr51472699514727092E07131748
chr51472739814729064E07132151
chr51472960714729698E07134360
chr51472982614729896E07134579
chr51472992214729979E07134675
chr51473001114730061E07134764
chr51473021114730375E07134964
chr51473323114733354E07137984
chr51473587314735923E07140626
chr51473603914736089E07140792
chr51473616714736264E07140920
chr51473659114736645E07141344
chr51473728714737337E07142040
chr51473749314737635E07142246
chr51473775414737804E07142507
chr51473782314737878E07142576
chr51473803214738555E07142785
chr51474194714742439E07146700
chr51474373514744160E07148488
chr51474419814744398E07148951
chr51474440214744583E07149155
chr51466656814666638E072-28609
chr51467211514672165E072-23082
chr51467221514672344E072-22903
chr51467242614672531E072-22716
chr51467278614672888E072-22359
chr51467294114673037E072-22210
chr51468422014684542E072-10705
chr51468458514685326E072-9921
chr51468554714685601E072-9646
chr51468572114685799E072-9448
chr51468580414686274E072-8973
chr51470002514700307E0724778
chr51470044814700522E0725201
chr51470082014700963E0725573
chr51470675614707042E07211509
chr51470710514707507E07211858
chr51470802214708102E07212775
chr51470820114708352E07212954
chr51471057814710668E07215331
chr51471692114717201E07221674
chr51471720714717261E07221960
chr51471734914717399E07222102
chr51472564514725699E07230398
chr51472618514726246E07230938
chr51472625014726485E07231003
chr51472667114726820E07231424
chr51472699514727092E07231748
chr51472739814729064E07232151
chr51473587314735923E07240626
chr51473603914736089E07240792
chr51473616714736264E07240920
chr51473659114736645E07241344
chr51473728714737337E07242040
chr51473749314737635E07242246
chr51473775414737804E07242507
chr51473782314737878E07242576
chr51473803214738555E07242785
chr51474248014742977E07247233
chr51474373514744160E07248488
chr51474419814744398E07248951
chr51474440214744583E07249155
chr51466349414663534E073-31713
chr51468422014684542E073-10705
chr51468458514685326E073-9921
chr51468580414686274E073-8973
chr51470675614707042E07311509
chr51470710514707507E07311858
chr51470802214708102E07312775
chr51472564514725699E07330398
chr51472618514726246E07330938
chr51472625014726485E07331003
chr51472667114726820E07331424
chr51472739814729064E07332151
chr51473323114733354E07337984
chr51473728714737337E07342040
chr51473749314737635E07342246
chr51473775414737804E07342507
chr51474419814744398E07348951
chr51474440214744583E07349155
chr51466349414663534E074-31713
chr51466656814666638E074-28609
chr51466669014666757E074-28490
chr51467221514672344E074-22903
chr51467242614672531E074-22716
chr51467278614672888E074-22359
chr51467294114673037E074-22210
chr51467309214673189E074-22058
chr51467326614673392E074-21855
chr51467553014675732E074-19515
chr51468222614682369E074-12878
chr51468422014684542E074-10705
chr51468458514685326E074-9921
chr51468554714685601E074-9646
chr51468572114685799E074-9448
chr51468580414686274E074-8973
chr51470002514700307E0744778
chr51470044814700522E0745201
chr51470082014700963E0745573
chr51470675614707042E07411509
chr51470710514707507E07411858
chr51470802214708102E07412775
chr51470820114708352E07412954
chr51472485414725026E07429607
chr51472564514725699E07430398
chr51472618514726246E07430938
chr51472625014726485E07431003
chr51472667114726820E07431424
chr51472699514727092E07431748
chr51472739814729064E07432151
chr51472960714729698E07434360
chr51472982614729896E07434579
chr51472992214729979E07434675
chr51473001114730061E07434764
chr51473021114730375E07434964
chr51473078914730851E07435542
chr51473102014731137E07435773
chr51473190014732026E07436653
chr51473207714732347E07436830
chr51473323114733354E07437984
chr51473603914736089E07440792
chr51473616714736264E07440920
chr51473659114736645E07441344
chr51473728714737337E07442040
chr51473749314737635E07442246
chr51473775414737804E07442507
chr51473782314737878E07442576
chr51473803214738555E07442785
chr51473969914739958E07444452
chr51474027314740480E07445026
chr51474054814740779E07445301
chr51474137014741511E07446123
chr51474169314741769E07446446
chr51474194714742439E07446700
chr51474248014742977E07447233
chr51474373514744160E07448488
chr51474419814744398E07448951
chr51474440214744583E07449155
chr51466349414663534E081-31713
chr51466656814666638E081-28609
chr51466669014666757E081-28490
chr51471478414715029E08119537
chr51472739814729064E08132151
chr51473323114733354E08137984
chr51466349414663534E082-31713
chr51466656814666638E082-28609
chr51466669014666757E082-28490
chr51468580414686274E082-8973
chr51472739814729064E08232151










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51466378614665756E067-29491
chr51466378614665756E068-29491
chr51466378614665756E069-29491
chr51466378614665756E070-29491
chr51466378614665756E071-29491
chr51466378614665756E072-29491
chr51466378614665756E073-29491
chr51466378614665756E074-29491
chr51466378614665756E081-29491
chr51466378614665756E082-29491