rs2382468

Homo sapiens
T>G
NFIB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0193 (5797/29954,GnomAD)
T==0284 (8296/29118,TOPMED)
T==0247 (1236/5008,1000G)
T==0027 (103/3854,ALSPAC)
T==0023 (84/3708,TWINSUK)
chr9:14303062 (GRCh38.p7) (9p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.14303062T>G
GRCh37.p13 chr 9NC_000009.11:g.14303061T>G

Gene: NFIB, nuclear factor I B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NFIB transcript variant 1NM_001190737.1:c.N/AIntron Variant
NFIB transcript variant 2NM_001190738.1:c.N/AIntron Variant
NFIB transcript variant 3NM_005596.3:c.N/AIntron Variant
NFIB transcript variant 4NM_001282787.1:c.N/AGenic Upstream Transcript Variant
NFIB transcript variant X1XM_005251467.2:c.N/AIntron Variant
NFIB transcript variant X3XM_005251468.4:c.N/AIntron Variant
NFIB transcript variant X4XM_005251469.2:c.N/AIntron Variant
NFIB transcript variant X7XM_005251470.2:c.N/AIntron Variant
NFIB transcript variant X2XM_006716773.2:c.N/AIntron Variant
NFIB transcript variant X5XM_006716774.2:c.N/AIntron Variant
NFIB transcript variant X6XM_006716775.2:c.N/AIntron Variant
NFIB transcript variant X10XM_017014739.1:c.N/AIntron Variant
NFIB transcript variant X12XM_017014740.1:c.N/AIntron Variant
NFIB transcript variant X13XM_017014741.1:c.N/AIntron Variant
NFIB transcript variant X14XM_005251471.3:c.N/AGenic Upstream Transcript Variant
NFIB transcript variant X15XM_017014742.1:c.N/AGenic Upstream Transcript Variant
NFIB transcript variant X8XR_001746308.1:n.N/AIntron Variant
NFIB transcript variant X9XR_001746309.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.703G=0.297
1000GenomesAmericanSub694T=0.060G=0.940
1000GenomesEast AsianSub1008T=0.103G=0.897
1000GenomesEuropeSub1006T=0.029G=0.971
1000GenomesGlobalStudy-wide5008T=0.247G=0.753
1000GenomesSouth AsianSub978T=0.130G=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.027G=0.973
The Genome Aggregation DatabaseAfricanSub8692T=0.592G=0.408
The Genome Aggregation DatabaseAmericanSub836T=0.060G=0.940
The Genome Aggregation DatabaseEast AsianSub1622T=0.111G=0.889
The Genome Aggregation DatabaseEuropeSub18502T=0.021G=0.978
The Genome Aggregation DatabaseGlobalStudy-wide29954T=0.193G=0.806
The Genome Aggregation DatabaseOtherSub302T=0.070G=0.930
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.284G=0.715
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.023G=0.977
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
rs23824680.000205alcohol consumption (maxi-drinks)24277619

eQTL of rs2382468 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 rs2382468 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 )
chr91425801314258633E067-44428
chr91426269914263732E067-39329
chr91426377314264020E067-39041
chr91426443614264638E067-38423
chr91426477914264997E067-38064
chr91426883914268952E067-34109
chr91426904414269129E067-33932
chr91426915514269508E067-33553
chr91426953614269593E067-33468
chr91426961614269676E067-33385
chr91426979514269960E067-33101
chr91427006014270176E067-32885
chr91427022514270571E067-32490
chr91427062114271930E067-31131
chr91427273114274941E067-28120
chr91427506814275882E067-27179
chr91427699114279278E067-23783
chr91428124914281446E067-21615
chr91428147714281665E067-21396
chr91428167414281887E067-21174
chr91428202014282129E067-20932
chr91428260914282738E067-20323
chr91428294514283048E067-20013
chr91428322014283816E067-19245
chr91429658814296730E067-6331
chr91429674714296896E067-6165
chr91429690214297178E067-5883
chr91429817314299256E067-3805
chr91430065014302210E067-851
chr91430223814302291E067-770
chr91430235514302921E067-140
chr91430295514303536E0670
chr91430501014305463E0671949
chr91435187114352281E06748810
chr91425655914257359E068-45702
chr91425801314258633E068-44428
chr91425867014259249E068-43812
chr91425951514259600E068-43461
chr91426199514262661E068-40400
chr91426269914263732E068-39329
chr91426377314264020E068-39041
chr91426870614268756E068-34305
chr91426883914268952E068-34109
chr91426904414269129E068-33932
chr91426915514269508E068-33553
chr91426953614269593E068-33468
chr91426961614269676E068-33385
chr91426979514269960E068-33101
chr91427006014270176E068-32885
chr91427022514270571E068-32490
chr91427062114271930E068-31131
chr91427203614272202E068-30859
chr91427229314272662E068-30399
chr91427273114274941E068-28120
chr91427699114279278E068-23783
chr91428322014283816E068-19245
chr91428388314284005E068-19056
chr91429658814296730E068-6331
chr91429674714296896E068-6165
chr91429690214297178E068-5883
chr91429733714297697E068-5364
chr91429772514297981E068-5080
chr91429800614298109E068-4952
chr91429817314299256E068-3805
chr91429932314299373E068-3688
chr91429944114299572E068-3489
chr91429958614299636E068-3425
chr91429964414299870E068-3191
chr91429987514299971E068-3090
chr91429997614300649E068-2412
chr91430065014302210E068-851
chr91430223814302291E068-770
chr91430235514302921E068-140
chr91430501014305463E0681949
chr91433072414330890E06827663
chr91433102114331672E06827960
chr91434098514341170E06837924
chr91434123214341320E06838171
chr91434153414341910E06838473
chr91434193314342075E06838872
chr91434218114342339E06839120
chr91434262614342758E06839565
chr91435187114352281E06848810
chr91425583314256063E069-46998
chr91425638314256457E069-46604
chr91425655914257359E069-45702
chr91425867014259249E069-43812
chr91426172214261877E069-41184
chr91426192514261989E069-41072
chr91426199514262661E069-40400
chr91426269914263732E069-39329
chr91426377314264020E069-39041
chr91426953614269593E069-33468
chr91427022514270571E069-32490
chr91427062114271930E069-31131
chr91427203614272202E069-30859
chr91427229314272662E069-30399
chr91427273114274941E069-28120
chr91427699114279278E069-23783
chr91428124914281446E069-21615
chr91428147714281665E069-21396
chr91428167414281887E069-21174
chr91428322014283816E069-19245
chr91428388314284005E069-19056
chr91429645914296519E069-6542
chr91429658814296730E069-6331
chr91429674714296896E069-6165
chr91429690214297178E069-5883
chr91429733714297697E069-5364
chr91429817314299256E069-3805
chr91429932314299373E069-3688
chr91429944114299572E069-3489
chr91429958614299636E069-3425
chr91429964414299870E069-3191
chr91429987514299971E069-3090
chr91430065014302210E069-851
chr91430223814302291E069-770
chr91430235514302921E069-140
chr91430501014305463E0691949
chr91430561414305998E0692553
chr91430607914306162E0693018
chr91432740014327715E06924339
chr91432774614327890E06924685
chr91433981314339952E06936752
chr91434002014340801E06936959
chr91434080414340854E06937743
chr91434098514341170E06937924
chr91434123214341320E06938171
chr91434153414341910E06938473
chr91434193314342075E06938872
chr91434218114342339E06939120
chr91434262614342758E06939565
chr91435187114352281E06948810
chr91425655914257359E070-45702
chr91426199514262661E070-40400
chr91426269914263732E070-39329
chr91426953614269593E070-33468
chr91426961614269676E070-33385
chr91426979514269960E070-33101
chr91427006014270176E070-32885
chr91427022514270571E070-32490
chr91427062114271930E070-31131
chr91427203614272202E070-30859
chr91427229314272662E070-30399
chr91427506814275882E070-27179
chr91427608114276155E070-26906
chr91427699114279278E070-23783
chr91427943514279569E070-23492
chr91427962014279744E070-23317
chr91427979714280012E070-23049
chr91428034114280391E070-22670
chr91428084014280890E070-22171
chr91428124914281446E070-21615
chr91428147714281665E070-21396
chr91428167414281887E070-21174
chr91429626914296362E070-6699
chr91429690214297178E070-5883
chr91429733714297697E070-5364
chr91429772514297981E070-5080
chr91429800614298109E070-4952
chr91429817314299256E070-3805
chr91429932314299373E070-3688
chr91432599314326163E07022932
chr91432622914327100E07023168
chr91432714014327350E07024079
chr91432740014327715E07024339
chr91432774614327890E07024685
chr91432802114328170E07024960
chr91432819014328266E07025129
chr91432924814329317E07026187
chr91433727414337407E07034213
chr91433745114337638E07034390
chr91434002014340801E07036959
chr91434080414340854E07037743
chr91434098514341170E07037924
chr91434123214341320E07038171
chr91434153414341910E07038473
chr91434262614342758E07039565
chr91425575614255806E071-47255
chr91425583314256063E071-46998
chr91425621314256263E071-46798
chr91425638314256457E071-46604
chr91425655914257359E071-45702
chr91425801314258633E071-44428
chr91425867014259249E071-43812
chr91425951514259600E071-43461
chr91425993814259992E071-43069
chr91426002014260125E071-42936
chr91426142114261471E071-41590
chr91426157514261678E071-41383
chr91426172214261877E071-41184
chr91426192514261989E071-41072
chr91426199514262661E071-40400
chr91426269914263732E071-39329
chr91426961614269676E071-33385
chr91426979514269960E071-33101
chr91427006014270176E071-32885
chr91427022514270571E071-32490
chr91427062114271930E071-31131
chr91427203614272202E071-30859
chr91427229314272662E071-30399
chr91427273114274941E071-28120
chr91427506814275882E071-27179
chr91427699114279278E071-23783
chr91428084014280890E071-22171
chr91428124914281446E071-21615
chr91428294514283048E071-20013
chr91428322014283816E071-19245
chr91428388314284005E071-19056
chr91429658814296730E071-6331
chr91429674714296896E071-6165
chr91429690214297178E071-5883
chr91429733714297697E071-5364
chr91429772514297981E071-5080
chr91429800614298109E071-4952
chr91429817314299256E071-3805
chr91429932314299373E071-3688
chr91429997614300649E071-2412
chr91430065014302210E071-851
chr91430223814302291E071-770
chr91430235514302921E071-140
chr91430501014305463E0711949
chr91432714014327350E07124079
chr91432740014327715E07124339
chr91433959014339771E07136529
chr91434123214341320E07138171
chr91434153414341910E07138473
chr91434193314342075E07138872
chr91434218114342339E07139120
chr91434262614342758E07139565
chr91435187114352281E07148810
chr91425655914257359E072-45702
chr91425801314258633E072-44428
chr91425867014259249E072-43812
chr91427062114271930E072-31131
chr91427203614272202E072-30859
chr91427229314272662E072-30399
chr91427273114274941E072-28120
chr91427699114279278E072-23783
chr91428124914281446E072-21615
chr91428147714281665E072-21396
chr91428167414281887E072-21174
chr91429817314299256E072-3805
chr91429997614300649E072-2412
chr91430235514302921E072-140
chr91430501014305463E0721949
chr91430561414305998E0722553
chr91430607914306162E0723018
chr91432622914327100E07223168
chr91432895714329032E07225896
chr91432913814329188E07226077
chr91432924814329317E07226187
chr91432937214329473E07226311
chr91435187114352281E07248810
chr91425655914257359E073-45702
chr91425801314258633E073-44428
chr91425867014259249E073-43812
chr91427062114271930E073-31131
chr91427273114274941E073-28120
chr91428294514283048E073-20013
chr91428322014283816E073-19245
chr91429658814296730E073-6331
chr91429674714296896E073-6165
chr91429690214297178E073-5883
chr91430223814302291E073-770
chr91430235514302921E073-140
chr91430501014305463E0731949
chr91433959014339771E07336529
chr91435187114352281E07348810
chr91425313214253467E074-49594
chr91425655914257359E074-45702
chr91425801314258633E074-44428
chr91425867014259249E074-43812
chr91426157514261678E074-41383
chr91426172214261877E074-41184
chr91426192514261989E074-41072
chr91426199514262661E074-40400
chr91426852414268574E074-34487
chr91426915514269508E074-33553
chr91426953614269593E074-33468
chr91426961614269676E074-33385
chr91426979514269960E074-33101
chr91427006014270176E074-32885
chr91427022514270571E074-32490
chr91427062114271930E074-31131
chr91427203614272202E074-30859
chr91427229314272662E074-30399
chr91427273114274941E074-28120
chr91427506814275882E074-27179
chr91427699114279278E074-23783
chr91428322014283816E074-19245
chr91428388314284005E074-19056
chr91429645914296519E074-6542
chr91429658814296730E074-6331
chr91429674714296896E074-6165
chr91429690214297178E074-5883
chr91429817314299256E074-3805
chr91429932314299373E074-3688
chr91429944114299572E074-3489
chr91429958614299636E074-3425
chr91429964414299870E074-3191
chr91429987514299971E074-3090
chr91429997614300649E074-2412
chr91430065014302210E074-851
chr91430223814302291E074-770
chr91430235514302921E074-140
chr91430501014305463E0741949
chr91434098514341170E07437924
chr91434123214341320E07438171
chr91434153414341910E07438473
chr91434193314342075E07438872
chr91434218114342339E07439120
chr91434262614342758E07439565
chr91435187114352281E07448810
chr91425357214253643E081-49418
chr91425433814254378E081-48683
chr91425655914257359E081-45702
chr91425867014259249E081-43812
chr91426870614268756E081-34305
chr91426883914268952E081-34109
chr91426904414269129E081-33932
chr91426915514269508E081-33553
chr91426953614269593E081-33468
chr91426961614269676E081-33385
chr91426979514269960E081-33101
chr91427006014270176E081-32885
chr91427022514270571E081-32490
chr91427062114271930E081-31131
chr91427203614272202E081-30859
chr91427229314272662E081-30399
chr91427273114274941E081-28120
chr91427506814275882E081-27179
chr91427608114276155E081-26906
chr91427621114276424E081-26637
chr91427645714276568E081-26493
chr91427672314276822E081-26239
chr91428147714281665E081-21396
chr91428167414281887E081-21174
chr91428322014283816E081-19245
chr91428388314284005E081-19056
chr91428604414286308E081-16753
chr91428842514288507E081-14554
chr91428857714288667E081-14394
chr91428918614289236E081-13825
chr91429626914296362E081-6699
chr91429645914296519E081-6542
chr91429658814296730E081-6331
chr91429674714296896E081-6165
chr91429690214297178E081-5883
chr91429733714297697E081-5364
chr91429772514297981E081-5080
chr91429800614298109E081-4952
chr91429817314299256E081-3805
chr91429932314299373E081-3688
chr91429944114299572E081-3489
chr91429958614299636E081-3425
chr91429964414299870E081-3191
chr91429987514299971E081-3090
chr91432622914327100E08123168
chr91432714014327350E08124079
chr91432740014327715E08124339
chr91432924814329317E08126187
chr91433727414337407E08134213
chr91433745114337638E08134390
chr91433848314338723E08135422
chr91433878714338856E08135726
chr91434098514341170E08137924
chr91434123214341320E08138171
chr91434153414341910E08138473
chr91434193314342075E08138872
chr91434218114342339E08139120
chr91434262614342758E08139565
chr91435187114352281E08148810
chr91425867014259249E082-43812
chr91425951514259600E082-43461
chr91426533914265522E082-37539
chr91426563114265681E082-37380
chr91426585914265915E082-37146
chr91426592814265999E082-37062
chr91426828914268468E082-34593
chr91426852414268574E082-34487
chr91426870614268756E082-34305
chr91426883914268952E082-34109
chr91426904414269129E082-33932
chr91426915514269508E082-33553
chr91426953614269593E082-33468
chr91426961614269676E082-33385
chr91426979514269960E082-33101
chr91427006014270176E082-32885
chr91427022514270571E082-32490
chr91427062114271930E082-31131
chr91427203614272202E082-30859
chr91427229314272662E082-30399
chr91427506814275882E082-27179
chr91427699114279278E082-23783
chr91427943514279569E082-23492
chr91427962014279744E082-23317
chr91427979714280012E082-23049
chr91428034114280391E082-22670
chr91428084014280890E082-22171
chr91428124914281446E082-21615
chr91428147714281665E082-21396
chr91428167414281887E082-21174
chr91428260914282738E082-20323
chr91428294514283048E082-20013
chr91428322014283816E082-19245
chr91428842514288507E082-14554
chr91432740014327715E08224339
chr91433703114337164E08233970
chr91433727414337407E08234213
chr91433745114337638E08234390
chr91433848314338723E08235422
chr91433878714338856E08235726
chr91433959014339771E08236529
chr91433981314339952E08236752
chr91434002014340801E08236959
chr91434080414340854E08237743
chr91434098514341170E08237924
chr91434123214341320E08238171
chr91434153414341910E08238473
chr91434193314342075E08238872
chr91434218114342339E08239120
chr91434262614342758E08239565










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr91430618914325037E0673128
chr91434275914351855E06739698
chr91430395814304805E068897
chr91430486614304962E0681805
chr91430618914325037E0683128
chr91434275914351855E06839698
chr91430395814304805E069897
chr91430486614304962E0691805
chr91430618914325037E0693128
chr91434275914351855E06939698
chr91430395814304805E070897
chr91430486614304962E0701805
chr91430618914325037E0703128
chr91430395814304805E071897
chr91430486614304962E0711805
chr91430618914325037E0713128
chr91434275914351855E07139698
chr91430395814304805E072897
chr91430618914325037E0723128
chr91434275914351855E07239698
chr91430395814304805E073897
chr91430486614304962E0731805
chr91430618914325037E0733128
chr91434275914351855E07339698
chr91430618914325037E0743128
chr91434275914351855E07439698
chr91430395814304805E081897
chr91430486614304962E0811805
chr91430618914325037E0813128
chr91429564414295805E082-7256
chr91429585914295909E082-7152
chr91430395814304805E082897
chr91430486614304962E0821805
chr91430618914325037E0823128
chr91434275914351855E08239698