rs1190596

Homo sapiens
A>G
HSP90AA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0226 (6750/29774,GnomAD)
A==0248 (7227/29118,TOPMED)
A==0189 (948/5008,1000G)
A==0172 (663/3854,ALSPAC)
A==0173 (642/3708,TWINSUK)
chr14:102129288 (GRCh38.p7) (14q32.31)
AD
GWASCatalog
1   publication(s)
See rs on genome
366 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.102129288A>G
GRCh37.p13 chr 14NC_000014.8:g.102595625A>G

Gene: HSP90AA1, heat shock protein 90kDa alpha family class A member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HSP90AA1 transcript variant 1NM_001017963.2:c.N/AIntron Variant
HSP90AA1 transcript variant 2NM_005348.3:c.N/AGenic Upstream Transcript Variant
HSP90AA1 transcript variant X1XM_011536718.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.399G=0.601
1000GenomesAmericanSub694A=0.110G=0.890
1000GenomesEast AsianSub1008A=0.034G=0.966
1000GenomesEuropeSub1006A=0.173G=0.827
1000GenomesGlobalStudy-wide5008A=0.189G=0.811
1000GenomesSouth AsianSub978A=0.140G=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.172G=0.828
The Genome Aggregation DatabaseAfricanSub8654A=0.352G=0.648
The Genome Aggregation DatabaseAmericanSub836A=0.120G=0.880
The Genome Aggregation DatabaseEast AsianSub1614A=0.012G=0.988
The Genome Aggregation DatabaseEuropeSub18370A=0.192G=0.807
The Genome Aggregation DatabaseGlobalStudy-wide29774A=0.226G=0.773
The Genome Aggregation DatabaseOtherSub300A=0.180G=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.248G=0.751
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.173G=0.827
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs11905964E-06alcohol dependence23942779

eQTL of rs1190596 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 rs1190596 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 )
chr14102546990102547068E067-48557
chr14102547098102547364E067-48261
chr14102547413102547528E067-48097
chr14102547637102547740E067-47885
chr14102547785102547853E067-47772
chr14102549416102549473E067-46152
chr14102561749102562164E067-33461
chr14102562327102562518E067-33107
chr14102562549102563321E067-32304
chr14102609218102609382E06713593
chr14102609619102609669E06713994
chr14102609794102609834E06714169
chr14102612751102613027E06717126
chr14102614016102614086E06718391
chr14102614554102614604E06718929
chr14102614620102614678E06718995
chr14102620387102620437E06724762
chr14102620533102620699E06724908
chr14102620837102620893E06725212
chr14102620930102621045E06725305
chr14102621183102621994E06725558
chr14102623591102623667E06727966
chr14102623708102623794E06728083
chr14102623854102624078E06728229
chr14102624280102624600E06728655
chr14102627924102628026E06732299
chr14102628038102628136E06732413
chr14102628337102628387E06732712
chr14102628423102628473E06732798
chr14102628496102628546E06732871
chr14102629039102629089E06733414
chr14102629808102629858E06734183
chr14102630433102630512E06734808
chr14102630541102630993E06734916
chr14102632904102632972E06737279
chr14102633097102633179E06737472
chr14102633214102633304E06737589
chr14102633405102633514E06737780
chr14102633578102633651E06737953
chr14102634236102634313E06738611
chr14102634422102634569E06738797
chr14102634812102634890E06739187
chr14102634979102635093E06739354
chr14102635151102635201E06739526
chr14102635442102635560E06739817
chr14102635649102635729E06740024
chr14102636403102636876E06740778
chr14102637648102637788E06742023
chr14102637897102638043E06742272
chr14102643379102643544E06747754
chr14102643624102643715E06747999
chr14102643853102643903E06748228
chr14102644209102644269E06748584
chr14102644277102644327E06748652
chr14102644860102644904E06749235
chr14102644964102645018E06749339
chr14102645155102645416E06749530
chr14102546990102547068E068-48557
chr14102547098102547364E068-48261
chr14102547413102547528E068-48097
chr14102547637102547740E068-47885
chr14102547785102547853E068-47772
chr14102562327102562518E068-33107
chr14102562549102563321E068-32304
chr14102608308102608371E06812683
chr14102609218102609382E06813593
chr14102614016102614086E06818391
chr14102619431102619481E06823806
chr14102619540102619610E06823915
chr14102620387102620437E06824762
chr14102620533102620699E06824908
chr14102620837102620893E06825212
chr14102620930102621045E06825305
chr14102621183102621994E06825558
chr14102623854102624078E06828229
chr14102624280102624600E06828655
chr14102627924102628026E06832299
chr14102628038102628136E06832413
chr14102628337102628387E06832712
chr14102628423102628473E06832798
chr14102628496102628546E06832871
chr14102629039102629089E06833414
chr14102630433102630512E06834808
chr14102630541102630993E06834916
chr14102634422102634569E06838797
chr14102634812102634890E06839187
chr14102634979102635093E06839354
chr14102635151102635201E06839526
chr14102635442102635560E06839817
chr14102635649102635729E06840024
chr14102643195102643239E06847570
chr14102643379102643544E06847754
chr14102643624102643715E06847999
chr14102643853102643903E06848228
chr14102644209102644269E06848584
chr14102644277102644327E06848652
chr14102644860102644904E06849235
chr14102644964102645018E06849339
chr14102548061102548356E069-47269
chr14102548407102548461E069-47164
chr14102548748102548868E069-46757
chr14102562327102562518E069-33107
chr14102562549102563321E069-32304
chr14102573105102573194E069-22431
chr14102608308102608371E06912683
chr14102609218102609382E06913593
chr14102614554102614604E06918929
chr14102614620102614678E06918995
chr14102614751102614806E06919126
chr14102615391102615458E06919766
chr14102615526102615576E06919901
chr14102615594102615644E06919969
chr14102615678102615740E06920053
chr14102616747102617471E06921122
chr14102620387102620437E06924762
chr14102620533102620699E06924908
chr14102620837102620893E06925212
chr14102620930102621045E06925305
chr14102621183102621994E06925558
chr14102623854102624078E06928229
chr14102624280102624600E06928655
chr14102628337102628387E06932712
chr14102628423102628473E06932798
chr14102628496102628546E06932871
chr14102630433102630512E06934808
chr14102630541102630993E06934916
chr14102631259102631634E06935634
chr14102632395102632545E06936770
chr14102632904102632972E06937279
chr14102633097102633179E06937472
chr14102633214102633304E06937589
chr14102633405102633514E06937780
chr14102633578102633651E06937953
chr14102633958102634150E06938333
chr14102634236102634313E06938611
chr14102634422102634569E06938797
chr14102634812102634890E06939187
chr14102634979102635093E06939354
chr14102635151102635201E06939526
chr14102635442102635560E06939817
chr14102635649102635729E06940024
chr14102636403102636876E06940778
chr14102643379102643544E06947754
chr14102643624102643715E06947999
chr14102643853102643903E06948228
chr14102644860102644904E06949235
chr14102644964102645018E06949339
chr14102645155102645416E06949530
chr14102562327102562518E070-33107
chr14102562549102563321E070-32304
chr14102571788102571847E070-23778
chr14102572034102572122E070-23503
chr14102572413102572538E070-23087
chr14102608308102608371E07012683
chr14102548748102548868E071-46757
chr14102549258102549413E071-46212
chr14102549416102549473E071-46152
chr14102549624102549881E071-45744
chr14102562327102562518E071-33107
chr14102572413102572538E071-23087
chr14102572724102572868E071-22757
chr14102573105102573194E071-22431
chr14102608308102608371E07112683
chr14102614554102614604E07118929
chr14102614620102614678E07118995
chr14102614751102614806E07119126
chr14102615678102615740E07120053
chr14102620387102620437E07124762
chr14102620533102620699E07124908
chr14102620837102620893E07125212
chr14102620930102621045E07125305
chr14102621183102621994E07125558
chr14102623591102623667E07127966
chr14102623708102623794E07128083
chr14102623854102624078E07128229
chr14102624280102624600E07128655
chr14102625119102625171E07129494
chr14102626293102626343E07130668
chr14102627924102628026E07132299
chr14102628038102628136E07132413
chr14102628337102628387E07132712
chr14102628423102628473E07132798
chr14102628496102628546E07132871
chr14102629039102629089E07133414
chr14102629808102629858E07134183
chr14102630433102630512E07134808
chr14102630541102630993E07134916
chr14102631259102631634E07135634
chr14102632904102632972E07137279
chr14102633097102633179E07137472
chr14102633214102633304E07137589
chr14102634236102634313E07138611
chr14102634422102634569E07138797
chr14102634812102634890E07139187
chr14102634979102635093E07139354
chr14102635151102635201E07139526
chr14102635442102635560E07139817
chr14102635649102635729E07140024
chr14102636403102636876E07140778
chr14102637648102637788E07142023
chr14102637897102638043E07142272
chr14102643379102643544E07147754
chr14102643624102643715E07147999
chr14102643853102643903E07148228
chr14102644209102644269E07148584
chr14102644277102644327E07148652
chr14102644860102644904E07149235
chr14102644964102645018E07149339
chr14102547098102547364E072-48261
chr14102547413102547528E072-48097
chr14102547637102547740E072-47885
chr14102547785102547853E072-47772
chr14102548061102548356E072-47269
chr14102548407102548461E072-47164
chr14102548748102548868E072-46757
chr14102561749102562164E072-33461
chr14102562327102562518E072-33107
chr14102562549102563321E072-32304
chr14102608308102608371E07212683
chr14102609218102609382E07213593
chr14102609619102609669E07213994
chr14102609794102609834E07214169
chr14102620387102620437E07224762
chr14102620533102620699E07224908
chr14102620837102620893E07225212
chr14102620930102621045E07225305
chr14102621183102621994E07225558
chr14102623591102623667E07227966
chr14102623708102623794E07228083
chr14102623854102624078E07228229
chr14102624280102624600E07228655
chr14102627924102628026E07232299
chr14102628038102628136E07232413
chr14102628337102628387E07232712
chr14102628423102628473E07232798
chr14102628496102628546E07232871
chr14102629039102629089E07233414
chr14102629808102629858E07234183
chr14102630433102630512E07234808
chr14102630541102630993E07234916
chr14102631259102631634E07235634
chr14102632904102632972E07237279
chr14102633097102633179E07237472
chr14102633214102633304E07237589
chr14102633405102633514E07237780
chr14102633578102633651E07237953
chr14102633958102634150E07238333
chr14102634236102634313E07238611
chr14102634422102634569E07238797
chr14102634812102634890E07239187
chr14102634979102635093E07239354
chr14102635151102635201E07239526
chr14102635442102635560E07239817
chr14102635649102635729E07240024
chr14102636403102636876E07240778
chr14102637648102637788E07242023
chr14102637897102638043E07242272
chr14102643379102643544E07247754
chr14102643624102643715E07247999
chr14102643853102643903E07248228
chr14102644209102644269E07248584
chr14102644277102644327E07248652
chr14102644860102644904E07249235
chr14102644964102645018E07249339
chr14102548061102548356E073-47269
chr14102548407102548461E073-47164
chr14102548748102548868E073-46757
chr14102562327102562518E073-33107
chr14102562549102563321E073-32304
chr14102604869102604923E0739244
chr14102623854102624078E07328229
chr14102624280102624600E07328655
chr14102628423102628473E07332798
chr14102628496102628546E07332871
chr14102547413102547528E074-48097
chr14102547637102547740E074-47885
chr14102547785102547853E074-47772
chr14102548061102548356E074-47269
chr14102548407102548461E074-47164
chr14102548748102548868E074-46757
chr14102549258102549413E074-46212
chr14102549416102549473E074-46152
chr14102550240102550531E074-45094
chr14102573105102573194E074-22431
chr14102573939102573993E074-21632
chr14102600889102600942E0745264
chr14102608308102608371E07412683
chr14102609619102609669E07413994
chr14102609794102609834E07414169
chr14102612751102613027E07417126
chr14102614016102614086E07418391
chr14102616747102617471E07421122
chr14102620387102620437E07424762
chr14102620533102620699E07424908
chr14102620837102620893E07425212
chr14102620930102621045E07425305
chr14102621183102621994E07425558
chr14102623591102623667E07427966
chr14102623708102623794E07428083
chr14102623854102624078E07428229
chr14102624280102624600E07428655
chr14102625625102625680E07430000
chr14102626007102626057E07430382
chr14102626078102626128E07430453
chr14102626293102626343E07430668
chr14102627924102628026E07432299
chr14102628038102628136E07432413
chr14102628337102628387E07432712
chr14102628423102628473E07432798
chr14102628496102628546E07432871
chr14102629039102629089E07433414
chr14102629808102629858E07434183
chr14102630433102630512E07434808
chr14102630541102630993E07434916
chr14102631259102631634E07435634
chr14102632904102632972E07437279
chr14102633097102633179E07437472
chr14102633214102633304E07437589
chr14102634422102634569E07438797
chr14102634812102634890E07439187
chr14102634979102635093E07439354
chr14102635151102635201E07439526
chr14102635442102635560E07439817
chr14102635649102635729E07440024
chr14102636403102636876E07440778
chr14102637648102637788E07442023
chr14102637897102638043E07442272
chr14102643195102643239E07447570
chr14102643379102643544E07447754
chr14102643624102643715E07447999
chr14102643853102643903E07448228
chr14102644209102644269E07448584
chr14102644277102644327E07448652
chr14102644860102644904E07449235
chr14102644964102645018E07449339
chr14102645155102645416E07449530
chr14102549258102549413E081-46212
chr14102549416102549473E081-46152
chr14102549624102549881E081-45744
chr14102550240102550531E081-45094
chr14102550748102550788E081-44837
chr14102550998102551075E081-44550
chr14102551267102551463E081-44162
chr14102562327102562518E081-33107
chr14102562549102563321E081-32304
chr14102604869102604923E0819244
chr14102609218102609382E08113593
chr14102609619102609669E08113994
chr14102609794102609834E08114169
chr14102644860102644904E08149235
chr14102644964102645018E08149339
chr14102645155102645416E08149530
chr14102548061102548356E082-47269
chr14102548407102548461E082-47164
chr14102548748102548868E082-46757
chr14102549258102549413E082-46212
chr14102549416102549473E082-46152
chr14102549624102549881E082-45744
chr14102562327102562518E082-33107
chr14102562549102563321E082-32304
chr14102608308102608371E08212683
chr14102634979102635093E08239354
chr14102635151102635201E08239526
chr14102635442102635560E08239817
chr14102644860102644904E08249235
chr14102644964102645018E08249339










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr14102552340102552588E067-43037
chr14102552627102555335E067-40290
chr14102605230102607392E0679605
chr14102552627102555335E068-40290
chr14102605230102607392E0689605
chr14102552627102555335E069-40290
chr14102605230102607392E0699605
chr14102552340102552588E070-43037
chr14102552627102555335E070-40290
chr14102605230102607392E0709605
chr14102552340102552588E071-43037
chr14102552627102555335E071-40290
chr14102605230102607392E0719605
chr14102552340102552588E072-43037
chr14102552627102555335E072-40290
chr14102605230102607392E0729605
chr14102552627102555335E073-40290
chr14102605230102607392E0739605
chr14102552627102555335E074-40290
chr14102605230102607392E0749605
chr14102552340102552588E081-43037
chr14102605230102607392E0819605
chr14102552340102552588E082-43037
chr14102552627102555335E082-40290
chr14102604656102604747E0829031
chr14102605230102607392E0829605