rs707838

Homo sapiens
G>T
JARID2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0216 (6479/29934,GnomAD)
G==0213 (6224/29118,TOPMED)
G==0202 (1013/5008,1000G)
G==0193 (745/3854,ALSPAC)
G==0195 (724/3708,TWINSUK)
chr6:15352012 (GRCh38.p7) (6p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.15352012G>T
GRCh37.p13 chr 6NC_000006.11:g.15352243G>T

Gene: JARID2, jumonji and AT-rich interaction domain containing 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
JARID2 transcript variant 2NM_001267040.1:c.N/AIntron Variant
JARID2 transcript variant 1NM_004973.3:c.N/AIntron Variant
JARID2 transcript variant X4XM_005249089.3:c.N/AIntron Variant
JARID2 transcript variant X1XM_011514579.2:c.N/AIntron Variant
JARID2 transcript variant X2XM_017010833.1:c.N/AIntron Variant
JARID2 transcript variant X3XM_017010834.1:c.N/AIntron Variant
JARID2 transcript variant X6XM_011514584.2:c.N/AGenic Upstream Transcript Variant
JARID2 transcript variant X5XM_017010835.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.287T=0.713
1000GenomesAmericanSub694G=0.150T=0.850
1000GenomesEast AsianSub1008G=0.155T=0.845
1000GenomesEuropeSub1006G=0.181T=0.819
1000GenomesGlobalStudy-wide5008G=0.202T=0.798
1000GenomesSouth AsianSub978G=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.193T=0.807
The Genome Aggregation DatabaseAfricanSub8706G=0.271T=0.729
The Genome Aggregation DatabaseAmericanSub838G=0.160T=0.840
The Genome Aggregation DatabaseEast AsianSub1616G=0.155T=0.845
The Genome Aggregation DatabaseEuropeSub18472G=0.199T=0.800
The Genome Aggregation DatabaseGlobalStudy-wide29934G=0.216T=0.783
The Genome Aggregation DatabaseOtherSub302G=0.130T=0.870
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.213T=0.786
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.195T=0.805
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
rs7078380.000326alcohol consumption (maxi-drinks)24277619

eQTL of rs707838 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 rs707838 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 )
chr61530341615303678E067-48565
chr61530380115303855E067-48388
chr61530391415303964E067-48279
chr61530413815304209E067-48034
chr61530424115304471E067-47772
chr61530463715305373E067-46870
chr61530551515305878E067-46365
chr61530854415308661E067-43582
chr61530866815308944E067-43299
chr61530903215309392E067-42851
chr61531263015312700E067-39543
chr61531278315313082E067-39161
chr61531309815313179E067-39064
chr61531345615313978E067-38265
chr61531406015314142E067-38101
chr61531712915317493E067-34750
chr61531754815317852E067-34391
chr61531848015318628E067-33615
chr61531863615319110E067-33133
chr61532309315323865E067-28378
chr61532750415327947E067-24296
chr61532937515329919E067-22324
chr61532992815330044E067-22199
chr61533725015337452E067-14791
chr61533746715337809E067-14434
chr61533793315338085E067-14158
chr61534245015342613E067-9630
chr61535185315352195E067-48
chr61535253615352850E067293
chr61535310515353418E067862
chr61535416415354366E0671921
chr61535440715354488E0672164
chr61535471215354931E0672469
chr61536417915364792E06711936
chr61536493415365113E06712691
chr61536517915365281E06712936
chr61536631915366607E06714076
chr61536670915366787E06714466
chr61536686415366929E06714621
chr61536924015369355E06716997
chr61536998815370467E06717745
chr61537101915371276E06718776
chr61537146615371674E06719223
chr61538191515381986E06729672
chr61538588815386181E06733645
chr61538655115386676E06734308
chr61538670015386879E06734457
chr61538693215387188E06734689
chr61538731915387369E06735076
chr61538740315387677E06735160
chr61538900915389224E06736766
chr61538943815389519E06737195
chr61538972315390986E06737480
chr61539130015391350E06739057
chr61539189515392164E06739652
chr61539880915399377E06746566
chr61530341615303678E068-48565
chr61530380115303855E068-48388
chr61530391415303964E068-48279
chr61530413815304209E068-48034
chr61530424115304471E068-47772
chr61530463715305373E068-46870
chr61530551515305878E068-46365
chr61530752715307620E068-44623
chr61530854415308661E068-43582
chr61530866815308944E068-43299
chr61530903215309392E068-42851
chr61530999915310171E068-42072
chr61531017815310356E068-41887
chr61531047915310519E068-41724
chr61531278315313082E068-39161
chr61531309815313179E068-39064
chr61531345615313978E068-38265
chr61531406015314142E068-38101
chr61531754815317852E068-34391
chr61531848015318628E068-33615
chr61531863615319110E068-33133
chr61531943015319470E068-32773
chr61532309315323865E068-28378
chr61532674115326819E068-25424
chr61532699615327175E068-25068
chr61532723015327289E068-24954
chr61532750415327947E068-24296
chr61532910715329270E068-22973
chr61532937515329919E068-22324
chr61532992815330044E068-22199
chr61533026915330339E068-21904
chr61533038115330488E068-21755
chr61533051515330687E068-21556
chr61533088815331014E068-21229
chr61533129615331777E068-20466
chr61533203615332102E068-20141
chr61533223115332345E068-19898
chr61533262815332678E068-19565
chr61533277415333079E068-19164
chr61533725015337452E068-14791
chr61533746715337809E068-14434
chr61533793315338085E068-14158
chr61533820115338264E068-13979
chr61533857515338649E068-13594
chr61534104515341340E068-10903
chr61534164515341811E068-10432
chr61534245015342613E068-9630
chr61534416415344292E068-7951
chr61535185315352195E068-48
chr61535253615352850E068293
chr61535310515353418E068862
chr61535729615357425E0685053
chr61535743215357521E0685189
chr61535904315359460E0686800
chr61536417915364792E06811936
chr61536493415365113E06812691
chr61536517915365281E06812936
chr61536631915366607E06814076
chr61536670915366787E06814466
chr61536686415366929E06814621
chr61536780115367881E06815558
chr61536794415368070E06815701
chr61536855315368706E06816310
chr61536880115368942E06816558
chr61536924015369355E06816997
chr61536998815370467E06817745
chr61537101915371276E06818776
chr61537146615371674E06819223
chr61537915115379303E06826908
chr61537964415379689E06827401
chr61538069915380881E06828456
chr61538588815386181E06833645
chr61538670015386879E06834457
chr61538900915389224E06836766
chr61538943815389519E06837195
chr61539130015391350E06839057
chr61539189515392164E06839652
chr61539222615392277E06839983
chr61539231015392360E06840067
chr61539252315392641E06840280
chr61539880915399377E06846566
chr61540144415401534E06849201
chr61540163315401757E06849390
chr61540188715402126E06849644
chr61530413815304209E069-48034
chr61530424115304471E069-47772
chr61530463715305373E069-46870
chr61530551515305878E069-46365
chr61530632215306474E069-45769
chr61530752715307620E069-44623
chr61530854415308661E069-43582
chr61530866815308944E069-43299
chr61530903215309392E069-42851
chr61530999915310171E069-42072
chr61531017815310356E069-41887
chr61531047915310519E069-41724
chr61531100215311147E069-41096
chr61531263015312700E069-39543
chr61531278315313082E069-39161
chr61531309815313179E069-39064
chr61531345615313978E069-38265
chr61531406015314142E069-38101
chr61531483615314908E069-37335
chr61531712915317493E069-34750
chr61531754815317852E069-34391
chr61531848015318628E069-33615
chr61531863615319110E069-33133
chr61531943015319470E069-32773
chr61532674115326819E069-25424
chr61532699615327175E069-25068
chr61532723015327289E069-24954
chr61532750415327947E069-24296
chr61532910715329270E069-22973
chr61532937515329919E069-22324
chr61532992815330044E069-22199
chr61533026915330339E069-21904
chr61533038115330488E069-21755
chr61533051515330687E069-21556
chr61533088815331014E069-21229
chr61533129615331777E069-20466
chr61533203615332102E069-20141
chr61533262815332678E069-19565
chr61533725015337452E069-14791
chr61533746715337809E069-14434
chr61533793315338085E069-14158
chr61534042415340464E069-11779
chr61534060015340710E069-11533
chr61534104515341340E069-10903
chr61534245015342613E069-9630
chr61534354415344159E069-8084
chr61534416415344292E069-7951
chr61535185315352195E069-48
chr61535253615352850E069293
chr61535310515353418E069862
chr61535609515356343E0693852
chr61535655315356669E0694310
chr61535710515357170E0694862
chr61535729615357425E0695053
chr61535743215357521E0695189
chr61536493415365113E06912691
chr61536517915365281E06912936
chr61536631915366607E06914076
chr61536670915366787E06914466
chr61536686415366929E06914621
chr61536780115367881E06915558
chr61536794415368070E06915701
chr61536924015369355E06916997
chr61536998815370467E06917745
chr61537915115379303E06926908
chr61537964415379689E06927401
chr61538069915380881E06928456
chr61538150615381700E06929263
chr61538191515381986E06929672
chr61538265115382711E06930408
chr61538588815386181E06933645
chr61538670015386879E06934457
chr61538900915389224E06936766
chr61538943815389519E06937195
chr61538972315390986E06937480
chr61539130015391350E06939057
chr61539189515392164E06939652
chr61539222615392277E06939983
chr61539231015392360E06940067
chr61539252315392641E06940280
chr61539880915399377E06946566
chr61540188715402126E06949644
chr61530341615303678E070-48565
chr61530380115303855E070-48388
chr61530391415303964E070-48279
chr61530463715305373E070-46870
chr61530551515305878E070-46365
chr61530854415308661E070-43582
chr61530866815308944E070-43299
chr61530903215309392E070-42851
chr61531345615313978E070-38265
chr61531406015314142E070-38101
chr61531848015318628E070-33615
chr61531863615319110E070-33133
chr61531943015319470E070-32773
chr61531982415319886E070-32357
chr61531990015319955E070-32288
chr61532007515320201E070-32042
chr61532910715329270E070-22973
chr61532937515329919E070-22324
chr61532992815330044E070-22199
chr61533026915330339E070-21904
chr61533038115330488E070-21755
chr61533051515330687E070-21556
chr61533088815331014E070-21229
chr61533129615331777E070-20466
chr61533203615332102E070-20141
chr61533223115332345E070-19898
chr61533262815332678E070-19565
chr61533277415333079E070-19164
chr61533323015333280E070-18963
chr61533725015337452E070-14791
chr61533746715337809E070-14434
chr61533793315338085E070-14158
chr61533820115338264E070-13979
chr61533857515338649E070-13594
chr61534354415344159E070-8084
chr61534416415344292E070-7951
chr61534438315344724E070-7519
chr61534602915346116E070-6127
chr61534652215346866E070-5377
chr61535185315352195E070-48
chr61535253615352850E070293
chr61535310515353418E070862
chr61535416415354366E0701921
chr61536493415365113E07012691
chr61536517915365281E07012936
chr61536543615366132E07013193
chr61536631915366607E07014076
chr61536670915366787E07014466
chr61536686415366929E07014621
chr61537915115379303E07026908
chr61537964415379689E07027401
chr61538069915380881E07028456
chr61538150615381700E07029263
chr61538191515381986E07029672
chr61538265115382711E07030408
chr61538444515384499E07032202
chr61538463615384689E07032393
chr61538489515385067E07032652
chr61538511215385357E07032869
chr61538588815386181E07033645
chr61538655115386676E07034308
chr61538670015386879E07034457
chr61538693215387188E07034689
chr61538731915387369E07035076
chr61538740315387677E07035160
chr61538900915389224E07036766
chr61538943815389519E07037195
chr61538972315390986E07037480
chr61539130015391350E07039057
chr61539189515392164E07039652
chr61530341615303678E071-48565
chr61530380115303855E071-48388
chr61530391415303964E071-48279
chr61530413815304209E071-48034
chr61530424115304471E071-47772
chr61530463715305373E071-46870
chr61530551515305878E071-46365
chr61530632215306474E071-45769
chr61530854415308661E071-43582
chr61530866815308944E071-43299
chr61530903215309392E071-42851
chr61530999915310171E071-42072
chr61531017815310356E071-41887
chr61531047915310519E071-41724
chr61531100215311147E071-41096
chr61531127415311378E071-40865
chr61531263015312700E071-39543
chr61531278315313082E071-39161
chr61531309815313179E071-39064
chr61531345615313978E071-38265
chr61531406015314142E071-38101
chr61531848015318628E071-33615
chr61531863615319110E071-33133
chr61531943015319470E071-32773
chr61531982415319886E071-32357
chr61531990015319955E071-32288
chr61532244715322749E071-29494
chr61532309315323865E071-28378
chr61532674115326819E071-25424
chr61532699615327175E071-25068
chr61532723015327289E071-24954
chr61532750415327947E071-24296
chr61532910715329270E071-22973
chr61532937515329919E071-22324
chr61532992815330044E071-22199
chr61533026915330339E071-21904
chr61533038115330488E071-21755
chr61533051515330687E071-21556
chr61533088815331014E071-21229
chr61533129615331777E071-20466
chr61533203615332102E071-20141
chr61533223115332345E071-19898
chr61533262815332678E071-19565
chr61533277415333079E071-19164
chr61533725015337452E071-14791
chr61533746715337809E071-14434
chr61533793315338085E071-14158
chr61533820115338264E071-13979
chr61533857515338649E071-13594
chr61533869815338749E071-13494
chr61533886915338961E071-13282
chr61534164515341811E071-10432
chr61534245015342613E071-9630
chr61535080015350867E071-1376
chr61535108215351220E071-1023
chr61535185315352195E071-48
chr61535253615352850E071293
chr61535310515353418E071862
chr61535440715354488E0712164
chr61535471215354931E0712469
chr61535609515356343E0713852
chr61535655315356669E0714310
chr61536279115362870E07110548
chr61536289815362984E07110655
chr61536396315364037E07111720
chr61536417915364792E07111936
chr61536493415365113E07112691
chr61536517915365281E07112936
chr61536631915366607E07114076
chr61536670915366787E07114466
chr61536686415366929E07114621
chr61536780115367881E07115558
chr61536794415368070E07115701
chr61536855315368706E07116310
chr61536880115368942E07116558
chr61536924015369355E07116997
chr61536998815370467E07117745
chr61537101915371276E07118776
chr61537146615371674E07119223
chr61537602615376173E07123783
chr61537626515376354E07124022
chr61537654415376633E07124301
chr61537728715377337E07125044
chr61537915115379303E07126908
chr61537964415379689E07127401
chr61538069915380881E07128456
chr61538150615381700E07129263
chr61538191515381986E07129672
chr61538265115382711E07130408
chr61538297315383283E07130730
chr61538588815386181E07133645
chr61538655115386676E07134308
chr61538670015386879E07134457
chr61538693215387188E07134689
chr61538900915389224E07136766
chr61538943815389519E07137195
chr61538972315390986E07137480
chr61539130015391350E07139057
chr61539189515392164E07139652
chr61539222615392277E07139983
chr61539231015392360E07140067
chr61539252315392641E07140280
chr61539853815398578E07146295
chr61539880915399377E07146566
chr61540144415401534E07149201
chr61540163315401757E07149390
chr61530341615303678E072-48565
chr61530463715305373E072-46870
chr61530551515305878E072-46365
chr61530632215306474E072-45769
chr61530854415308661E072-43582
chr61530866815308944E072-43299
chr61530903215309392E072-42851
chr61531263015312700E072-39543
chr61531278315313082E072-39161
chr61531309815313179E072-39064
chr61531345615313978E072-38265
chr61531406015314142E072-38101
chr61531848015318628E072-33615
chr61531863615319110E072-33133
chr61532699615327175E072-25068
chr61532723015327289E072-24954
chr61532750415327947E072-24296
chr61532910715329270E072-22973
chr61532937515329919E072-22324
chr61532992815330044E072-22199
chr61533575815335915E072-16328
chr61533725015337452E072-14791
chr61533746715337809E072-14434
chr61533793315338085E072-14158
chr61533820115338264E072-13979
chr61534042415340464E072-11779
chr61534060015340710E072-11533
chr61534104515341340E072-10903
chr61534164515341811E072-10432
chr61535185315352195E072-48
chr61535253615352850E072293
chr61535310515353418E072862
chr61536631915366607E07214076
chr61536670915366787E07214466
chr61536686415366929E07214621
chr61536780115367881E07215558
chr61536794415368070E07215701
chr61536998815370467E07217745
chr61537101915371276E07218776
chr61537146615371674E07219223
chr61537915115379303E07226908
chr61537964415379689E07227401
chr61538069915380881E07228456
chr61538588815386181E07233645
chr61538655115386676E07234308
chr61538670015386879E07234457
chr61538693215387188E07234689
chr61538900915389224E07236766
chr61538943815389519E07237195
chr61538972315390986E07237480
chr61539130015391350E07239057
chr61539189515392164E07239652
chr61539222615392277E07239983
chr61539231015392360E07240067
chr61539252315392641E07240280
chr61539880915399377E07246566
chr61530341615303678E073-48565
chr61530463715305373E073-46870
chr61530551515305878E073-46365
chr61530632215306474E073-45769
chr61530866815308944E073-43299
chr61530903215309392E073-42851
chr61531278315313082E073-39161
chr61531309815313179E073-39064
chr61531345615313978E073-38265
chr61531406015314142E073-38101
chr61531848015318628E073-33615
chr61531863615319110E073-33133
chr61531943015319470E073-32773
chr61532244715322749E073-29494
chr61532309315323865E073-28378
chr61532699615327175E073-25068
chr61532750415327947E073-24296
chr61532910715329270E073-22973
chr61532937515329919E073-22324
chr61533129615331777E073-20466
chr61533203615332102E073-20141
chr61533223115332345E073-19898
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