rs4472926

Homo sapiens
A>G
PPFIBP2 : Intron Variant
LOC105376535 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0317 (9495/29896,GnomAD)
G=0309 (9025/29118,TOPMED)
G=0325 (1628/5008,1000G)
G=0344 (1326/3854,ALSPAC)
G=0326 (1209/3708,TWINSUK)
chr11:7592118 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7592118A>G
GRCh37.p13 chr 11NC_000011.9:g.7613349A>G

Gene: PPFIBP2, PPFIA binding protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PPFIBP2 transcript variant 1NM_003621.3:c.N/AIntron Variant
PPFIBP2 transcript variant 2NM_001256568.1:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant 3NM_001256569.1:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X4XM_005253177.2:c.N/AIntron Variant
PPFIBP2 transcript variant X1XM_006718349.2:c.N/AIntron Variant
PPFIBP2 transcript variant X7XM_006718350.2:c.N/AIntron Variant
PPFIBP2 transcript variant X10XM_006718351.2:c.N/AIntron Variant
PPFIBP2 transcript variant X8XM_006718352.2:c.N/AIntron Variant
PPFIBP2 transcript variant X2XM_011520413.2:c.N/AIntron Variant
PPFIBP2 transcript variant X3XM_011520414.2:c.N/AIntron Variant
PPFIBP2 transcript variant X5XM_011520415.2:c.N/AIntron Variant
PPFIBP2 transcript variant X6XM_011520416.2:c.N/AIntron Variant
PPFIBP2 transcript variant X7XM_011520417.2:c.N/AIntron Variant
PPFIBP2 transcript variant X18XM_011520419.2:c.N/AIntron Variant
PPFIBP2 transcript variant X11XM_011520420.2:c.N/AIntron Variant
PPFIBP2 transcript variant X8XM_017018443.1:c.N/AIntron Variant
PPFIBP2 transcript variant X13XM_017018444.1:c.N/AIntron Variant
PPFIBP2 transcript variant X14XM_017018445.1:c.N/AIntron Variant
PPFIBP2 transcript variant X15XM_017018446.1:c.N/AIntron Variant
PPFIBP2 transcript variant X10XM_006718353.2:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X9XM_011520418.2:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X12XM_017018447.1:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X20XR_930917.2:n.N/AIntron Variant

Gene: LOC105376535, uncharacterized LOC105376535(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105376535 transcriptXR_001748115.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.700G=0.300
1000GenomesAmericanSub694A=0.670G=0.330
1000GenomesEast AsianSub1008A=0.692G=0.308
1000GenomesEuropeSub1006A=0.689G=0.311
1000GenomesGlobalStudy-wide5008A=0.675G=0.325
1000GenomesSouth AsianSub978A=0.610G=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.656G=0.344
The Genome Aggregation DatabaseAfricanSub8700A=0.697G=0.303
The Genome Aggregation DatabaseAmericanSub834A=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1620A=0.686G=0.314
The Genome Aggregation DatabaseEuropeSub18442A=0.672G=0.327
The Genome Aggregation DatabaseGlobalStudy-wide29896A=0.682G=0.317
The Genome Aggregation DatabaseOtherSub300A=0.750G=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.690G=0.309
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.674G=0.326
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs44729260.000656alcohol dependence21314694

eQTL of rs4472926 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 rs4472926 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 )
chr1175647007564789E067-48560
chr1175648427564915E067-48434
chr1175758677575927E067-37422
chr1175759777576041E067-37308
chr1175761757576818E067-36531
chr1175768447576915E067-36434
chr1175769867577268E067-36081
chr1175842897584386E067-28963
chr1175844037584587E067-28762
chr1175903997590551E067-22798
chr1175920077594023E067-19326
chr1175940497594226E067-19123
chr1175942997594631E067-18718
chr1175955807595664E067-17685
chr1175958297596094E067-17255
chr1175961137596327E067-17022
chr1175963937596802E067-16547
chr1176002157600289E067-13060
chr1176004617601123E067-12226
chr1176013807601439E067-11910
chr1176015837601633E067-11716
chr1176024037602914E067-10435
chr1176034097603459E067-9890
chr1176037487604204E067-9145
chr1176042057604326E067-9023
chr1176043857604503E067-8846
chr1176046957604794E067-8555
chr1176050257605075E067-8274
chr1176051247605194E067-8155
chr1176061937606238E067-7111
chr1176063097606438E067-6911
chr1176065257606575E067-6774
chr1176066477606701E067-6648
chr1176067137606794E067-6555
chr1176070207607434E067-5915
chr1176077227608100E067-5249
chr1176082547608318E067-5031
chr1176084847608534E067-4815
chr1176085807608652E067-4697
chr1176087227608871E067-4478
chr1176090737609196E067-4153
chr1176092197609355E067-3994
chr1176095127609577E067-3772
chr1176096827609722E067-3627
chr1176119557612021E067-1328
chr1176124837612674E067-675
chr1176128127612873E067-476
chr1176129107613092E067-257
chr1176131357613189E067-160
chr1176132647613403E0670
chr1176134367613556E06787
chr1176137107613835E067361
chr1176139977614323E067648
chr1176143257614530E067976
chr1176146337614743E0671284
chr1176162167616599E0672867
chr1176166757617047E0673326
chr1176172897617571E0673940
chr1176203847620434E0677035
chr1176205217620697E0677172
chr1176211857621283E0677836
chr1176213657622368E0678016
chr1176224257622773E0679076
chr1176331487633200E06719799
chr1176332587634760E06719909
chr1176513677651549E06738018
chr1176563027656352E06742953
chr1176565057656677E06743156
chr1176568137656863E06743464
chr1176579977658124E06744648
chr1176582467658409E06744897
chr1176584147658576E06745065
chr1175759777576041E068-37308
chr1175761757576818E068-36531
chr1175768447576915E068-36434
chr1175769867577268E068-36081
chr1175844037584587E068-28762
chr1175845957584883E068-28466
chr1175849847585043E068-28306
chr1175903997590551E068-22798
chr1175920077594023E068-19326
chr1175955807595664E068-17685
chr1175958297596094E068-17255
chr1175963937596802E068-16547
chr1176002157600289E068-13060
chr1176004617601123E068-12226
chr1176013807601439E068-11910
chr1176015837601633E068-11716
chr1176016737601743E068-11606
chr1176021687602222E068-11127
chr1176024037602914E068-10435
chr1176034097603459E068-9890
chr1176037487604204E068-9145
chr1176042057604326E068-9023
chr1176043857604503E068-8846
chr1176046957604794E068-8555
chr1176050257605075E068-8274
chr1176051247605194E068-8155
chr1176065257606575E068-6774
chr1176066477606701E068-6648
chr1176067137606794E068-6555
chr1176070207607434E068-5915
chr1176077227608100E068-5249
chr1176082547608318E068-5031
chr1176084847608534E068-4815
chr1176085807608652E068-4697
chr1176087227608871E068-4478
chr1176090737609196E068-4153
chr1176092197609355E068-3994
chr1176095127609577E068-3772
chr1176096827609722E068-3627
chr1176099347609984E068-3365
chr1176118217611871E068-1478
chr1176119557612021E068-1328
chr1176124837612674E068-675
chr1176128127612873E068-476
chr1176129107613092E068-257
chr1176131357613189E068-160
chr1176132647613403E0680
chr1176134367613556E06887
chr1176137107613835E068361
chr1176139977614323E068648
chr1176143257614530E068976
chr1176162167616599E0682867
chr1176166757617047E0683326
chr1176211857621283E0687836
chr1176213657622368E0688016
chr1176224257622773E0689076
chr1176376417637816E06824292
chr1176510117651061E06837662
chr1176513677651549E06838018
chr1176563027656352E06842953
chr1176565057656677E06843156
chr1176568137656863E06843464
chr1176576927657866E06844343
chr1176579977658124E06844648
chr1176582467658409E06844897
chr1175756567575709E069-37640
chr1175758677575927E069-37422
chr1175759777576041E069-37308
chr1175761757576818E069-36531
chr1175768447576915E069-36434
chr1175769867577268E069-36081
chr1175844037584587E069-28762
chr1175845957584883E069-28466
chr1175849847585043E069-28306
chr1175903997590551E069-22798
chr1175920077594023E069-19326
chr1175947887595568E069-17781
chr1175955807595664E069-17685
chr1175958297596094E069-17255
chr1175961137596327E069-17022
chr1175963937596802E069-16547
chr1176002157600289E069-13060
chr1176004617601123E069-12226
chr1176013807601439E069-11910
chr1176015837601633E069-11716
chr1176016737601743E069-11606
chr1176021687602222E069-11127
chr1176022267602365E069-10984
chr1176024037602914E069-10435
chr1176034097603459E069-9890
chr1176037487604204E069-9145
chr1176042057604326E069-9023
chr1176043857604503E069-8846
chr1176046957604794E069-8555
chr1176050257605075E069-8274
chr1176051247605194E069-8155
chr1176061937606238E069-7111
chr1176063097606438E069-6911
chr1176065257606575E069-6774
chr1176066477606701E069-6648
chr1176067137606794E069-6555
chr1176070207607434E069-5915
chr1176077227608100E069-5249
chr1176082547608318E069-5031
chr1176084847608534E069-4815
chr1176085807608652E069-4697
chr1176087227608871E069-4478
chr1176092197609355E069-3994
chr1176096827609722E069-3627
chr1176099347609984E069-3365
chr1176110017611760E069-1589
chr1176118217611871E069-1478
chr1176119557612021E069-1328
chr1176124837612674E069-675
chr1176128127612873E069-476
chr1176129107613092E069-257
chr1176131357613189E069-160
chr1176132647613403E0690
chr1176134367613556E06987
chr1176137107613835E069361
chr1176139977614323E069648
chr1176143257614530E069976
chr1176146337614743E0691284
chr1176148397614947E0691490
chr1176162167616599E0692867
chr1176166757617047E0693326
chr1176172897617571E0693940
chr1176197317620312E0696382
chr1176203847620434E0697035
chr1176205217620697E0697172
chr1176211857621283E0697836
chr1176213657622368E0698016
chr1176224257622773E0699076
chr1176228997622949E0699550
chr1176233467623493E0699997
chr1176235267623627E06910177
chr1176263617627400E06913012
chr1176300957630202E06916746
chr1176303277630516E06916978
chr1176305927630703E06917243
chr1176507097650856E06937360
chr1176510117651061E06937662
chr1176513677651549E06938018
chr1176563027656352E06942953
chr1176565057656677E06943156
chr1176568137656863E06943464
chr1176576927657866E06944343
chr1176579977658124E06944648
chr1176582467658409E06944897
chr1176584147658576E06945065
chr1175633697563503E070-49846
chr1175635327563628E070-49721
chr1175637017563745E070-49604
chr1175640807564227E070-49122
chr1175669757567077E070-46272
chr1175671547567242E070-46107
chr1175672547567443E070-45906
chr1175845957584883E070-28466
chr1175849847585043E070-28306
chr1176087227608871E070-4478
chr1176090737609196E070-4153
chr1175640807564227E071-49122
chr1175645697564668E071-48681
chr1175647007564789E071-48560
chr1175648427564915E071-48434
chr1175753687575503E071-37846
chr1175756567575709E071-37640
chr1175758677575927E071-37422
chr1175759777576041E071-37308
chr1175761757576818E071-36531
chr1175768447576915E071-36434
chr1175769867577268E071-36081
chr1175805757580717E071-32632
chr1175844037584587E071-28762
chr1175845957584883E071-28466
chr1175849847585043E071-28306
chr1175903997590551E071-22798
chr1175920077594023E071-19326
chr1175940497594226E071-19123
chr1175942997594631E071-18718
chr1175946777594785E071-18564
chr1175947887595568E071-17781
chr1175955807595664E071-17685
chr1175958297596094E071-17255
chr1175961137596327E071-17022
chr1175963937596802E071-16547
chr1176002157600289E071-13060
chr1176004617601123E071-12226
chr1176013807601439E071-11910
chr1176015837601633E071-11716
chr1176016737601743E071-11606
chr1176021687602222E071-11127
chr1176022267602365E071-10984
chr1176024037602914E071-10435
chr1176034097603459E071-9890
chr1176037487604204E071-9145
chr1176042057604326E071-9023
chr1176043857604503E071-8846
chr1176046957604794E071-8555
chr1176050257605075E071-8274
chr1176051247605194E071-8155
chr1176061937606238E071-7111
chr1176063097606438E071-6911
chr1176065257606575E071-6774
chr1176066477606701E071-6648
chr1176067137606794E071-6555
chr1176070207607434E071-5915
chr1176077227608100E071-5249
chr1176082547608318E071-5031
chr1176084847608534E071-4815
chr1176085807608652E071-4697
chr1176087227608871E071-4478
chr1176090737609196E071-4153
chr1176092197609355E071-3994
chr1176099347609984E071-3365
chr1176110017611760E071-1589
chr1176118217611871E071-1478
chr1176119557612021E071-1328
chr1176124837612674E071-675
chr1176128127612873E071-476
chr1176129107613092E071-257
chr1176131357613189E071-160
chr1176132647613403E0710
chr1176134367613556E07187
chr1176137107613835E071361
chr1176139977614323E071648
chr1176143257614530E071976
chr1176146337614743E0711284
chr1176148397614947E0711490
chr1176160397616089E0712690
chr1176162167616599E0712867
chr1176166757617047E0713326
chr1176172897617571E0713940
chr1176203847620434E0717035
chr1176205217620697E0717172
chr1176211857621283E0717836
chr1176213657622368E0718016
chr1176224257622773E0719076
chr1176263617627400E07113012
chr1176332587634760E07119909
chr1176347767634904E07121427
chr1176507097650856E07137360
chr1176510117651061E07137662
chr1176513677651549E07138018
chr1176563027656352E07142953
chr1176565057656677E07143156
chr1176568137656863E07143464
chr1176576927657866E07144343
chr1176579977658124E07144648
chr1176582467658409E07144897
chr1176584147658576E07145065
chr1175674587568144E072-45205
chr1175756567575709E072-37640
chr1175758677575927E072-37422
chr1175759777576041E072-37308
chr1175761757576818E072-36531
chr1175768447576915E072-36434
chr1175769867577268E072-36081
chr1175903997590551E072-22798
chr1175920077594023E072-19326
chr1175955807595664E072-17685
chr1175958297596094E072-17255
chr1175961137596327E072-17022
chr1175963937596802E072-16547
chr1176004617601123E072-12226
chr1176013807601439E072-11910
chr1176015837601633E072-11716
chr1176016737601743E072-11606
chr1176021687602222E072-11127
chr1176022267602365E072-10984
chr1176024037602914E072-10435
chr1176034097603459E072-9890
chr1176037487604204E072-9145
chr1176042057604326E072-9023
chr1176043857604503E072-8846
chr1176046957604794E072-8555
chr1176050257605075E072-8274
chr1176051247605194E072-8155
chr1176061937606238E072-7111
chr1176063097606438E072-6911
chr1176065257606575E072-6774
chr1176066477606701E072-6648
chr1176067137606794E072-6555
chr1176070207607434E072-5915
chr1176077227608100E072-5249
chr1176082547608318E072-5031
chr1176084847608534E072-4815
chr1176085807608652E072-4697
chr1176087227608871E072-4478
chr1176090737609196E072-4153
chr1176092197609355E072-3994
chr1176095127609577E072-3772
chr1176096827609722E072-3627
chr1176099347609984E072-3365
chr1176118217611871E072-1478
chr1176119557612021E072-1328
chr1176124837612674E072-675
chr1176128127612873E072-476
chr1176129107613092E072-257
chr1176131357613189E072-160
chr1176132647613403E0720
chr1176134367613556E07287
chr1176137107613835E072361
chr1176139977614323E072648
chr1176143257614530E072976
chr1176146337614743E0721284
chr1176148397614947E0721490
chr1176162167616599E0722867
chr1176166757617047E0723326
chr1176172897617571E0723940
chr1176203847620434E0727035
chr1176205217620697E0727172
chr1176211857621283E0727836
chr1176213657622368E0728016
chr1176224257622773E0729076
chr1176228997622949E0729550
chr1176263617627400E07213012
chr1176300957630202E07216746
chr1176303277630516E07216978
chr1176305927630703E07217243
chr1176332587634760E07219909
chr1176347767634904E07221427
chr1176504077650483E07237058
chr1176507097650856E07237360
chr1176510117651061E07237662
chr1176513677651549E07238018
chr1176563027656352E07242953
chr1176565057656677E07243156
chr1176568137656863E07243464
chr1176576927657866E07244343
chr1176579977658124E07244648
chr1176582467658409E07244897
chr1176584147658576E07245065
chr1175761757576818E073-36531
chr1175844037584587E073-28762
chr1175845957584883E073-28466
chr1175849847585043E073-28306
chr1175903997590551E073-22798
chr1175920077594023E073-19326
chr1175940497594226E073-19123
chr1175947887595568E073-17781
chr1175955807595664E073-17685
chr1176004617601123E073-12226
chr1176013807601439E073-11910
chr1176015837601633E073-11716
chr1176016737601743E073-11606
chr1176021687602222E073-11127
chr1176022267602365E073-10984
chr1176024037602914E073-10435
chr1176034097603459E073-9890
chr1176037487604204E073-9145
chr1176042057604326E073-9023
chr1176043857604503E073-8846
chr1176061937606238E073-7111
chr1176063097606438E073-6911
chr1176065257606575E073-6774
chr1176066477606701E073-6648
chr1176067137606794E073-6555
chr1176070207607434E073-5915
chr1176077227608100E073-5249
chr1176082547608318E073-5031
chr1176084847608534E073-4815
chr1176085807608652E073-4697
chr1176087227608871E073-4478
chr1176090737609196E073-4153
chr1176092197609355E073-3994
chr1176095127609577E073-3772
chr1176124837612674E073-675
chr1176128127612873E073-476
chr1176129107613092E073-257
chr1176131357613189E073-160
chr1176132647613403E0730
chr1176134367613556E07387
chr1176137107613835E073361
chr1176139977614323E073648
chr1176148397614947E0731490
chr1176162167616599E0732867
chr1176166757617047E0733326
chr1176213657622368E0738016
chr1176224257622773E0739076
chr1176563027656352E07342953
chr1176565057656677E07343156
chr1176568137656863E07343464
chr1175645697564668E074-48681
chr1175647007564789E074-48560
chr1175648427564915E074-48434
chr1175650867565648E074-47701
chr1175671547567242E074-46107
chr1175672547567443E074-45906
chr1175753687575503E074-37846
chr1175756567575709E074-37640
chr1175758677575927E074-37422
chr1175759777576041E074-37308
chr1175761757576818E074-36531
chr1175768447576915E074-36434
chr1175769867577268E074-36081
chr1175903997590551E074-22798
chr1175920077594023E074-19326
chr1175940497594226E074-19123
chr1175942997594631E074-18718
chr1175947887595568E074-17781
chr1175955807595664E074-17685
chr1175958297596094E074-17255
chr1175961137596327E074-17022
chr1175963937596802E074-16547
chr1176002157600289E074-13060
chr1176004617601123E074-12226
chr1176013807601439E074-11910
chr1176015837601633E074-11716
chr1176016737601743E074-11606
chr1176021687602222E074-11127
chr1176022267602365E074-10984
chr1176024037602914E074-10435
chr1176034097603459E074-9890
chr1176037487604204E074-9145
chr1176042057604326E074-9023
chr1176043857604503E074-8846
chr1176046957604794E074-8555
chr1176050257605075E074-8274
chr1176051247605194E074-8155
chr1176061937606238E074-7111
chr1176063097606438E074-6911
chr1176065257606575E074-6774
chr1176066477606701E074-6648
chr1176067137606794E074-6555
chr1176070207607434E074-5915
chr1176077227608100E074-5249
chr1176082547608318E074-5031
chr1176084847608534E074-4815
chr1176085807608652E074-4697
chr1176087227608871E074-4478
chr1176090737609196E074-4153
chr1176092197609355E074-3994
chr1176095127609577E074-3772
chr1176096827609722E074-3627
chr1176099347609984E074-3365
chr1176118217611871E074-1478
chr1176119557612021E074-1328
chr1176124837612674E074-675
chr1176128127612873E074-476
chr1176129107613092E074-257
chr1176131357613189E074-160
chr1176132647613403E0740
chr1176134367613556E07487
chr1176137107613835E074361
chr1176139977614323E074648
chr1176143257614530E074976
chr1176146337614743E0741284
chr1176148397614947E0741490
chr1176162167616599E0742867
chr1176166757617047E0743326
chr1176197317620312E0746382
chr1176203847620434E0747035
chr1176205217620697E0747172
chr1176211857621283E0747836
chr1176213657622368E0748016
chr1176224257622773E0749076
chr1176263617627400E07413012
chr1176300957630202E07416746
chr1176303277630516E07416978
chr1176332587634760E07419909
chr1176507097650856E07437360
chr1176510117651061E07437662
chr1176513677651549E07438018
chr1176563027656352E07442953
chr1176565057656677E07443156
chr1176568137656863E07443464
chr1176576927657866E07444343
chr1176579977658124E07444648
chr1176582467658409E07444897
chr1176584147658576E07445065
chr1176606257661220E07447276
chr1175639427564049E081-49300
chr1175640807564227E081-49122
chr1175645697564668E081-48681
chr1175647007564789E081-48560
chr1175648427564915E081-48434
chr1175650867565648E081-47701
chr1175656867565736E081-47613
chr1175660197566183E081-47166
chr1175662137566263E081-47086
chr1175842897584386E081-28963
chr1175844037584587E081-28762
chr1175845957584883E081-28466
chr1175911497591199E081-22150
chr1175912507591332E081-22017
chr1175914487591741E081-21608
chr1175918677591949E081-21400
chr1175920077594023E081-19326
chr1175946777594785E081-18564
chr1175947887595568E081-17781
chr1175955807595664E081-17685
chr1175958297596094E081-17255
chr1175961137596327E081-17022
chr1175963937596802E081-16547
chr1176002157600289E081-13060
chr1176037487604204E081-9145
chr1176256327626293E08112283
chr1176263617627400E08113012
chr1175912507591332E082-22017
chr1175914487591741E082-21608
chr1175918677591949E082-21400
chr1175920077594023E082-19326