rs3763591

Homo sapiens
G>T
CHD7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0361 (10816/29908,GnomAD)
G==0370 (10790/29118,TOPMED)
G==0302 (1512/5008,1000G)
G==0464 (1789/3854,ALSPAC)
G==0477 (1769/3708,TWINSUK)
chr8:60851830 (GRCh38.p7) (8q12.2)
AD
GWASdb2
2   publication(s)
See rs on genome
317 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.60851830G>T
GRCh37.p13 chr 8NC_000008.10:g.61764389G>T
CHD7 RefSeqGene LRG_176

Gene: CHD7, chromodomain helicase DNA binding protein 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHD7 transcript variant 2NM_001316690.1:c.N/AIntron Variant
CHD7 transcript variant 1NM_017780.3:c.N/AIntron Variant
CHD7 transcript variant X1XM_011517553.2:c.N/AIntron Variant
CHD7 transcript variant X2XM_011517554.2:c.N/AIntron Variant
CHD7 transcript variant X4XM_011517555.2:c.N/AIntron Variant
CHD7 transcript variant X3XM_017013612.1:c.N/AIntron Variant
CHD7 transcript variant X5XM_017013613.1:c.N/AIntron Variant
CHD7 transcript variant X6XM_011517560.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.236T=0.764
1000GenomesAmericanSub694G=0.340T=0.660
1000GenomesEast AsianSub1008G=0.228T=0.772
1000GenomesEuropeSub1006G=0.479T=0.521
1000GenomesGlobalStudy-wide5008G=0.302T=0.698
1000GenomesSouth AsianSub978G=0.250T=0.750
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.464T=0.536
The Genome Aggregation DatabaseAfricanSub8700G=0.265T=0.735
The Genome Aggregation DatabaseAmericanSub834G=0.390T=0.610
The Genome Aggregation DatabaseEast AsianSub1620G=0.240T=0.760
The Genome Aggregation DatabaseEuropeSub18452G=0.414T=0.585
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.361T=0.638
The Genome Aggregation DatabaseOtherSub302G=0.470T=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.370T=0.629
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.477T=0.523
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17436250CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.Gao XAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs37635910.000267alcohol dependence20201924

eQTL of rs3763591 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 rs3763591 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 )
chr86171807761718157E067-46232
chr86174046961740632E067-23757
chr86174070861740920E067-23469
chr86174101261741102E067-23287
chr86174116861741354E067-23035
chr86175995761760284E067-4105
chr86176041761760590E067-3799
chr86176063461761248E067-3141
chr86177718061777220E06712791
chr86177734161777381E06712952
chr86177881061778862E06714421
chr86177896861779107E06714579
chr86177924761779291E06714858
chr86177930261779350E06714913
chr86177944061779501E06715051
chr86177960761780019E06715218
chr86178013361780211E06715744
chr86178413861784376E06719749
chr86178460261785166E06720213
chr86178517361785377E06720784
chr86178547661785555E06721087
chr86178568761785743E06721298
chr86178582561785875E06721436
chr86178634061786448E06721951
chr86178645661786578E06722067
chr86178662161786714E06722232
chr86178679261786850E06722403
chr86178737861787438E06722989
chr86178751861787584E06723129
chr86178835261788807E06723963
chr86174029461740373E068-24016
chr86174046961740632E068-23757
chr86174070861740920E068-23469
chr86174101261741102E068-23287
chr86174116861741354E068-23035
chr86174263461742870E068-21519
chr86175904861759101E068-5288
chr86175911061759174E068-5215
chr86175922961759333E068-5056
chr86175968061759767E068-4622
chr86175995761760284E068-4105
chr86176041761760590E068-3799
chr86176063461761248E068-3141
chr86177192161771987E0687532
chr86177200361772043E0687614
chr86177881061778862E06814421
chr86177896861779107E06814579
chr86177924761779291E06814858
chr86177930261779350E06814913
chr86177944061779501E06815051
chr86177960761780019E06815218
chr86178013361780211E06815744
chr86178386561784125E06819476
chr86178413861784376E06819749
chr86178460261785166E06820213
chr86178517361785377E06820784
chr86178547661785555E06821087
chr86178568761785743E06821298
chr86178582561785875E06821436
chr86178737861787438E06822989
chr86178751861787584E06823129
chr86178776461787804E06823375
chr86178783361787883E06823444
chr86178800461788054E06823615
chr86178815361788346E06823764
chr86178835261788807E06823963
chr86178925461789335E06824865
chr86178934561789462E06824956
chr86174046961740632E069-23757
chr86174070861740920E069-23469
chr86174101261741102E069-23287
chr86174116861741354E069-23035
chr86174263461742870E069-21519
chr86175904861759101E069-5288
chr86175911061759174E069-5215
chr86175995761760284E069-4105
chr86176041761760590E069-3799
chr86176063461761248E069-3141
chr86177718061777220E06912791
chr86177734161777381E06912952
chr86177881061778862E06914421
chr86177896861779107E06914579
chr86177924761779291E06914858
chr86177930261779350E06914913
chr86177944061779501E06915051
chr86177960761780019E06915218
chr86178013361780211E06915744
chr86178460261785166E06920213
chr86178517361785377E06920784
chr86178547661785555E06921087
chr86178568761785743E06921298
chr86178582561785875E06921436
chr86178634061786448E06921951
chr86178645661786578E06922067
chr86178662161786714E06922232
chr86178679261786850E06922403
chr86178737861787438E06922989
chr86178751861787584E06923129
chr86178776461787804E06923375
chr86178783361787883E06923444
chr86178800461788054E06923615
chr86178815361788346E06923764
chr86178835261788807E06923963
chr86178925461789335E06924865
chr86178934561789462E06924956
chr86171965861719724E070-44665
chr86171977661720806E070-43583
chr86173742661737476E070-26913
chr86173767461737742E070-26647
chr86173781761737867E070-26522
chr86174517961745229E070-19160
chr86174523361745354E070-19035
chr86174535661745483E070-18906
chr86174589461746208E070-18181
chr86174744061747531E070-16858
chr86174765861747735E070-16654
chr86174776661747817E070-16572
chr86175586361755960E070-8429
chr86175644661756525E070-7864
chr86175669961756759E070-7630
chr86175682561756875E070-7514
chr86175748661757536E070-6853
chr86175757461757624E070-6765
chr86175904861759101E070-5288
chr86175911061759174E070-5215
chr86175922961759333E070-5056
chr86175968061759767E070-4622
chr86175995761760284E070-4105
chr86176041761760590E070-3799
chr86176063461761248E070-3141
chr86176125661762654E070-1735
chr86176272461763573E070-816
chr86178460261785166E07020213
chr86178517361785377E07020784
chr86178547661785555E07021087
chr86178568761785743E07021298
chr86178582561785875E07021436
chr86178634061786448E07021951
chr86178645661786578E07022067
chr86178662161786714E07022232
chr86178679261786850E07022403
chr86178835261788807E07023963
chr86174029461740373E071-24016
chr86174046961740632E071-23757
chr86174070861740920E071-23469
chr86174101261741102E071-23287
chr86174116861741354E071-23035
chr86175995761760284E071-4105
chr86176041761760590E071-3799
chr86176063461761248E071-3141
chr86176125661762654E071-1735
chr86176272461763573E071-816
chr86176384861763942E071-447
chr86177192161771987E0717532
chr86177200361772043E0717614
chr86177227161772356E0717882
chr86177881061778862E07114421
chr86177896861779107E07114579
chr86177924761779291E07114858
chr86177930261779350E07114913
chr86177944061779501E07115051
chr86177960761780019E07115218
chr86178013361780211E07115744
chr86178043361780482E07116044
chr86178062161780831E07116232
chr86178165861781708E07117269
chr86178174361781867E07117354
chr86178195461782008E07117565
chr86178386561784125E07119476
chr86178413861784376E07119749
chr86178460261785166E07120213
chr86178517361785377E07120784
chr86178547661785555E07121087
chr86178568761785743E07121298
chr86178582561785875E07121436
chr86178634061786448E07121951
chr86178645661786578E07122067
chr86178662161786714E07122232
chr86178679261786850E07122403
chr86178737861787438E07122989
chr86178751861787584E07123129
chr86178776461787804E07123375
chr86178783361787883E07123444
chr86178800461788054E07123615
chr86178815361788346E07123764
chr86178835261788807E07123963
chr86178925461789335E07124865
chr86178934561789462E07124956
chr86174101261741102E072-23287
chr86174116861741354E072-23035
chr86175904861759101E072-5288
chr86175911061759174E072-5215
chr86175922961759333E072-5056
chr86175968061759767E072-4622
chr86175995761760284E072-4105
chr86176041761760590E072-3799
chr86176063461761248E072-3141
chr86176125661762654E072-1735
chr86176272461763573E072-816
chr86177718061777220E07212791
chr86177734161777381E07212952
chr86177924761779291E07214858
chr86177930261779350E07214913
chr86178460261785166E07220213
chr86178517361785377E07220784
chr86178547661785555E07221087
chr86178568761785743E07221298
chr86178582561785875E07221436
chr86178634061786448E07221951
chr86178737861787438E07222989
chr86178751861787584E07223129
chr86178776461787804E07223375
chr86178783361787883E07223444
chr86178800461788054E07223615
chr86178815361788346E07223764
chr86178835261788807E07223963
chr86174101261741102E073-23287
chr86174116861741354E073-23035
chr86175995761760284E073-4105
chr86176041761760590E073-3799
chr86176063461761248E073-3141
chr86177718061777220E07312791
chr86177734161777381E07312952
chr86177881061778862E07314421
chr86177896861779107E07314579
chr86177924761779291E07314858
chr86177930261779350E07314913
chr86177944061779501E07315051
chr86177960761780019E07315218
chr86178013361780211E07315744
chr86178800461788054E07323615
chr86178815361788346E07323764
chr86178835261788807E07323963
chr86174029461740373E074-24016
chr86174046961740632E074-23757
chr86174070861740920E074-23469
chr86174101261741102E074-23287
chr86174116861741354E074-23035
chr86174263461742870E074-21519
chr86174291661742996E074-21393
chr86175904861759101E074-5288
chr86175911061759174E074-5215
chr86175922961759333E074-5056
chr86175968061759767E074-4622
chr86175995761760284E074-4105
chr86176041761760590E074-3799
chr86176063461761248E074-3141
chr86176125661762654E074-1735
chr86176272461763573E074-816
chr86177192161771987E0747532
chr86177200361772043E0747614
chr86177718061777220E07412791
chr86177734161777381E07412952
chr86177881061778862E07414421
chr86177896861779107E07414579
chr86177924761779291E07414858
chr86177930261779350E07414913
chr86177944061779501E07415051
chr86177960761780019E07415218
chr86178013361780211E07415744
chr86178043361780482E07416044
chr86178062161780831E07416232
chr86178097061781030E07416581
chr86178127361781370E07416884
chr86178165861781708E07417269
chr86178174361781867E07417354
chr86178195461782008E07417565
chr86178460261785166E07420213
chr86178517361785377E07420784
chr86178547661785555E07421087
chr86178568761785743E07421298
chr86178582561785875E07421436
chr86178634061786448E07421951
chr86178645661786578E07422067
chr86178662161786714E07422232
chr86178679261786850E07422403
chr86178737861787438E07422989
chr86178751861787584E07423129
chr86178776461787804E07423375
chr86178783361787883E07423444
chr86178800461788054E07423615
chr86178815361788346E07423764
chr86178835261788807E07423963
chr86178925461789335E07424865
chr86178934561789462E07424956
chr86171965861719724E081-44665
chr86171977661720806E081-43583
chr86173637061736480E081-27909
chr86173656961736645E081-27744
chr86173676461736818E081-27571
chr86174744061747531E081-16858
chr86174765861747735E081-16654
chr86174776661747817E081-16572
chr86174786861747928E081-16461
chr86174821861748740E081-15649
chr86175995761760284E081-4105
chr86176041761760590E081-3799
chr86176063461761248E081-3141
chr86176125661762654E081-1735
chr86176272461763573E081-816
chr86176384861763942E081-447
chr86177881061778862E08114421
chr86177896861779107E08114579
chr86177924761779291E08114858
chr86177930261779350E08114913
chr86177944061779501E08115051
chr86177960761780019E08115218
chr86178013361780211E08115744
chr86171965861719724E082-44665
chr86171977661720806E082-43583
chr86174821861748740E082-15649
chr86175968061759767E082-4622
chr86175995761760284E082-4105
chr86176041761760590E082-3799
chr86176063461761248E082-3141
chr86176125661762654E082-1735
chr86176272461763573E082-816