rs10272099

Homo sapiens
T>C
COX19 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0434 (12966/29844,GnomAD)
C=0471 (13725/29118,TOPMED)
C=0459 (2301/5008,1000G)
C=0343 (1323/3854,ALSPAC)
C=0322 (1193/3708,TWINSUK)
chr7:977312 (GRCh38.p7) (7p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
263 Enhancers around
47 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.977312T>C
GRCh37.p13 chr 7NC_000007.13:g.1016948T>C

Gene: COX19, COX19 cytochrome c oxidase assembly factor(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
COX19 transcriptNM_001031617.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.296C=0.704
1000GenomesAmericanSub694T=0.630C=0.370
1000GenomesEast AsianSub1008T=0.483C=0.517
1000GenomesEuropeSub1006T=0.674C=0.326
1000GenomesGlobalStudy-wide5008T=0.541C=0.459
1000GenomesSouth AsianSub978T=0.730C=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.657C=0.343
The Genome Aggregation DatabaseAfricanSub8686T=0.363C=0.637
The Genome Aggregation DatabaseAmericanSub838T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1610T=0.511C=0.489
The Genome Aggregation DatabaseEuropeSub18408T=0.661C=0.338
The Genome Aggregation DatabaseGlobalStudy-wide29844T=0.565C=0.434
The Genome Aggregation DatabaseOtherSub302T=0.760C=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.528C=0.471
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.678C=0.322
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
rs102720990.000876alcohol consumption (maxi-drinks)24277619

eQTL of rs10272099 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 rs10272099 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 )
chr7968001968711E067-48237
chr7984540984723E067-32225
chr7991858991971E067-24977
chr710039811004031E067-12917
chr710040411005142E067-11806
chr710116801011743E067-5205
chr710118391011906E067-5042
chr710120031012101E067-4847
chr710121481012215E067-4733
chr710122531012357E067-4591
chr710124131012692E067-4256
chr710126991012848E067-4100
chr710129251013108E067-3840
chr710166411017798E0670
chr710311051033927E06714157
chr710512851051434E06734337
chr710514901051603E06734542
chr710517041051912E06734756
chr710520571052322E06735109
chr710589411059082E06741993
chr710592941059373E06742346
chr7967410967485E068-49463
chr7968001968711E068-48237
chr7968958969041E068-47907
chr7969053969421E068-47527
chr7984540984723E068-32225
chr7994998995096E068-21852
chr7995760995953E068-20995
chr710028271003745E068-13203
chr710037501003933E068-13015
chr710039811004031E068-12917
chr710040411005142E068-11806
chr710120031012101E068-4847
chr710121481012215E068-4733
chr710122531012357E068-4591
chr710124131012692E068-4256
chr710126991012848E068-4100
chr710129251013108E068-3840
chr710160671016158E068-790
chr710163531016450E068-498
chr710166411017798E0680
chr710311051033927E06814157
chr710512851051434E06834337
chr710514901051603E06834542
chr710517041051912E06834756
chr710520571052322E06835109
chr710525111052565E06835563
chr710526841052778E06835736
chr710652191065490E06848271
chr710656391065728E06848691
chr7967410967485E069-49463
chr7967747967797E069-49151
chr7968001968711E069-48237
chr7968958969041E069-47907
chr7969053969421E069-47527
chr7969467969517E069-47431
chr7984540984723E069-32225
chr7984737986646E069-30302
chr7987136987205E069-29743
chr7987211987265E069-29683
chr7987322987389E069-29559
chr7987427987514E069-29434
chr7987650987710E069-29238
chr7987749987820E069-29128
chr7988071988244E069-28704
chr7991443991512E069-25436
chr7991652991696E069-25252
chr7991858991971E069-24977
chr710115921011642E069-5306
chr710116801011743E069-5205
chr710118391011906E069-5042
chr710120031012101E069-4847
chr710121481012215E069-4733
chr710122531012357E069-4591
chr710124131012692E069-4256
chr710126991012848E069-4100
chr710129251013108E069-3840
chr710160671016158E069-790
chr710163531016450E069-498
chr710166411017798E0690
chr710179061019156E069958
chr710311051033927E06914157
chr710646171064699E06947669
chr710647361064958E06947788
chr710649881065088E06948040
chr710650971065194E06948149
chr710652191065490E06948271
chr710656391065728E06948691
chr710657521066349E06948804
chr710166411017798E0700
chr710646171064699E07047669
chr710647361064958E07047788
chr710649881065088E07048040
chr710650971065194E07048149
chr710652191065490E07048271
chr710656391065728E07048691
chr7967410967485E071-49463
chr7967747967797E071-49151
chr7968001968711E071-48237
chr7968958969041E071-47907
chr7969053969421E071-47527
chr7969467969517E071-47431
chr7984540984723E071-32225
chr7984737986646E071-30302
chr7987211987265E071-29683
chr7987322987389E071-29559
chr7987749987820E071-29128
chr7991443991512E071-25436
chr7991652991696E071-25252
chr7991858991971E071-24977
chr7997118998008E071-18940
chr710028271003745E071-13203
chr710037501003933E071-13015
chr710039811004031E071-12917
chr710040411005142E071-11806
chr710051571005411E071-11537
chr710120031012101E071-4847
chr710121481012215E071-4733
chr710122531012357E071-4591
chr710124131012692E071-4256
chr710126991012848E071-4100
chr710129251013108E071-3840
chr710160671016158E071-790
chr710163531016450E071-498
chr710166411017798E0710
chr710179061019156E071958
chr710279451028003E07110997
chr710280511028632E07111103
chr710286481028844E07111700
chr710288671029030E07111919
chr710311051033927E07114157
chr710589411059082E07141993
chr710592941059373E07142346
chr710657521066349E07148804
chr7967410967485E072-49463
chr7967747967797E072-49151
chr7968001968711E072-48237
chr7968958969041E072-47907
chr7984540984723E072-32225
chr7984737986646E072-30302
chr7991443991512E072-25436
chr7991652991696E072-25252
chr7991858991971E072-24977
chr710028271003745E072-13203
chr710037501003933E072-13015
chr710039811004031E072-12917
chr710040411005142E072-11806
chr710051571005411E072-11537
chr710060801006176E072-10772
chr710062561006399E072-10549
chr710124131012692E072-4256
chr710126991012848E072-4100
chr710160671016158E072-790
chr710163531016450E072-498
chr710166411017798E0720
chr710311051033927E07214157
chr710436511044285E07226703
chr710504991050665E07233551
chr710507331051225E07233785
chr710512851051434E07234337
chr710514901051603E07234542
chr710517041051912E07234756
chr710520571052322E07235109
chr710553381055716E07238390
chr710561281056178E07239180
chr710561831056247E07239235
chr710563351056403E07239387
chr710564581056512E07239510
chr710566641056724E07239716
chr710567401056812E07239792
chr710656391065728E07248691
chr710657521066349E07248804
chr7967410967485E073-49463
chr7967747967797E073-49151
chr7968001968711E073-48237
chr7984540984723E073-32225
chr7984737986646E073-30302
chr7994998995096E073-21852
chr710028271003745E073-13203
chr710037501003933E073-13015
chr710039811004031E073-12917
chr710040411005142E073-11806
chr710051571005411E073-11537
chr710060801006176E073-10772
chr710118391011906E073-5042
chr710120031012101E073-4847
chr710121481012215E073-4733
chr710122531012357E073-4591
chr710124131012692E073-4256
chr710126991012848E073-4100
chr710129251013108E073-3840
chr710166411017798E0730
chr710311051033927E07314157
chr710504991050665E07333551
chr710507331051225E07333785
chr710512851051434E07334337
chr710514901051603E07334542
chr710517041051912E07334756
chr710535971053651E07336649
chr710536861053883E07336738
chr710539111053969E07336963
chr710541571054207E07337209
chr710544711054715E07337523
chr710553381055716E07338390
chr710561281056178E07339180
chr710561831056247E07339235
chr710563351056403E07339387
chr710564581056512E07339510
chr710566641056724E07339716
chr710567401056812E07339792
chr710589411059082E07341993
chr710592941059373E07342346
chr710595141059683E07342566
chr710596981059770E07342750
chr710598431059944E07342895
chr710600681060370E07343120
chr710604441060684E07343496
chr710607251060835E07343777
chr710608961061080E07343948
chr710611191061321E07344171
chr710657521066349E07348804
chr7967410967485E074-49463
chr7967747967797E074-49151
chr7968001968711E074-48237
chr7968958969041E074-47907
chr7969053969421E074-47527
chr7969467969517E074-47431
chr7969759970051E074-46897
chr7984540984723E074-32225
chr7984737986646E074-30302
chr7997118998008E074-18940
chr710039811004031E074-12917
chr710040411005142E074-11806
chr710118391011906E074-5042
chr710120031012101E074-4847
chr710121481012215E074-4733
chr710122531012357E074-4591
chr710124131012692E074-4256
chr710126991012848E074-4100
chr710129251013108E074-3840
chr710160671016158E074-790
chr710163531016450E074-498
chr710166411017798E0740
chr710311051033927E07414157
chr7994998995096E081-21852
chr7998972999039E081-17909
chr7999518999558E081-17390
chr710028271003745E081-13203
chr710037501003933E081-13015
chr710039811004031E081-12917
chr710040411005142E081-11806
chr710051571005411E081-11537
chr710060801006176E081-10772
chr710216641021832E0814716
chr710218431023151E0814895
chr710561831056247E08139235
chr710563351056403E08139387
chr710647361064958E08147788
chr710649881065088E08148040
chr710650971065194E08148149
chr710652191065490E08148271
chr710656391065728E08148691
chr710657521066349E08148804









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7992911993894E067-23054
chr710141981014269E067-2679
chr710143091014374E067-2574
chr710144151016062E067-886
chr7992911993894E068-23054
chr710141981014269E068-2679
chr710143091014374E068-2574
chr710144151016062E068-886
chr7992911993894E069-23054
chr7993988994514E069-22434
chr7994515994806E069-22142
chr710141981014269E069-2679
chr710143091014374E069-2574
chr710144151016062E069-886
chr7993988994514E070-22434
chr710141981014269E070-2679
chr710143091014374E070-2574
chr710144151016062E070-886
chr7992911993894E071-23054
chr7993988994514E071-22434
chr7994515994806E071-22142
chr710141981014269E071-2679
chr710143091014374E071-2574
chr710144151016062E071-886
chr7992911993894E072-23054
chr7993988994514E072-22434
chr7994515994806E072-22142
chr710141981014269E072-2679
chr710143091014374E072-2574
chr710144151016062E072-886
chr7992911993894E073-23054
chr7993988994514E073-22434
chr7994515994806E073-22142
chr710141981014269E073-2679
chr710143091014374E073-2574
chr710144151016062E073-886
chr7992911993894E074-23054
chr7994515994806E074-22142
chr710141981014269E074-2679
chr710143091014374E074-2574
chr710144151016062E074-886
chr7992911993894E082-23054
chr7993988994514E082-22434
chr7994515994806E082-22142
chr710141981014269E082-2679
chr710143091014374E082-2574
chr710144151016062E082-886