rs6578882

Homo sapiens
C>A
PPFIBP2 : Intron Variant
LOC105376535 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0378 (11308/29896,GnomAD)
A=0369 (10748/29118,TOPMED)
A=0343 (1719/5008,1000G)
A=0407 (1569/3854,ALSPAC)
A=0396 (1469/3708,TWINSUK)
chr11:7578160 (GRCh38.p7) (11p15.4)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7578160C>A
GRCh37.p13 chr 11NC_000011.9:g.7599391C>A

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 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 X15XM_017018446.1:c.N/AIntron Variant
PPFIBP2 transcript variant X10XM_006718353.2:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X7XM_011520417.2:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X9XM_011520418.2:c.N/AGenic Upstream Transcript Variant
PPFIBP2 transcript variant X14XM_017018445.1: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)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.636A=0.364
1000GenomesAmericanSub694C=0.720A=0.280
1000GenomesEast AsianSub1008C=0.711A=0.289
1000GenomesEuropeSub1006C=0.599A=0.401
1000GenomesGlobalStudy-wide5008C=0.657A=0.343
1000GenomesSouth AsianSub978C=0.640A=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.593A=0.407
The Genome Aggregation DatabaseAfricanSub8698C=0.626A=0.374
The Genome Aggregation DatabaseAmericanSub838C=0.700A=0.300
The Genome Aggregation DatabaseEast AsianSub1612C=0.685A=0.315
The Genome Aggregation DatabaseEuropeSub18448C=0.610A=0.389
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.621A=0.378
The Genome Aggregation DatabaseOtherSub300C=0.620A=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.630A=0.369
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.604A=0.396
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs65788820.000548nicotine dependence17158188

eQTL of rs6578882 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 rs6578882 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 )
chr1175562697556324E067-43067
chr1175586107558758E067-40633
chr1175590177559229E067-40162
chr1175592417560431E067-38960
chr1175604767560681E067-38710
chr1175647007564789E067-34602
chr1175648427564915E067-34476
chr1175758677575927E067-23464
chr1175759777576041E067-23350
chr1175761757576818E067-22573
chr1175768447576915E067-22476
chr1175769867577268E067-22123
chr1175842897584386E067-15005
chr1175844037584587E067-14804
chr1175903997590551E067-8840
chr1175920077594023E067-5368
chr1175940497594226E067-5165
chr1175942997594631E067-4760
chr1175955807595664E067-3727
chr1175958297596094E067-3297
chr1175961137596327E067-3064
chr1175963937596802E067-2589
chr1176002157600289E067824
chr1176004617601123E0671070
chr1176013807601439E0671989
chr1176015837601633E0672192
chr1176024037602914E0673012
chr1176034097603459E0674018
chr1176037487604204E0674357
chr1176042057604326E0674814
chr1176043857604503E0674994
chr1176046957604794E0675304
chr1176050257605075E0675634
chr1176051247605194E0675733
chr1176061937606238E0676802
chr1176063097606438E0676918
chr1176065257606575E0677134
chr1176066477606701E0677256
chr1176067137606794E0677322
chr1176070207607434E0677629
chr1176077227608100E0678331
chr1176082547608318E0678863
chr1176084847608534E0679093
chr1176085807608652E0679189
chr1176087227608871E0679331
chr1176090737609196E0679682
chr1176092197609355E0679828
chr1176095127609577E06710121
chr1176096827609722E06710291
chr1176119557612021E06712564
chr1176124837612674E06713092
chr1176128127612873E06713421
chr1176129107613092E06713519
chr1176131357613189E06713744
chr1176132647613403E06713873
chr1176134367613556E06714045
chr1176137107613835E06714319
chr1176139977614323E06714606
chr1176143257614530E06714934
chr1176146337614743E06715242
chr1176162167616599E06716825
chr1176166757617047E06717284
chr1176172897617571E06717898
chr1176203847620434E06720993
chr1176205217620697E06721130
chr1176211857621283E06721794
chr1176213657622368E06721974
chr1176224257622773E06723034
chr1176331487633200E06733757
chr1176332587634760E06733867
chr1175590177559229E068-40162
chr1175592417560431E068-38960
chr1175759777576041E068-23350
chr1175761757576818E068-22573
chr1175768447576915E068-22476
chr1175769867577268E068-22123
chr1175844037584587E068-14804
chr1175845957584883E068-14508
chr1175849847585043E068-14348
chr1175903997590551E068-8840
chr1175920077594023E068-5368
chr1175955807595664E068-3727
chr1175958297596094E068-3297
chr1175963937596802E068-2589
chr1176002157600289E068824
chr1176004617601123E0681070
chr1176013807601439E0681989
chr1176015837601633E0682192
chr1176016737601743E0682282
chr1176021687602222E0682777
chr1176024037602914E0683012
chr1176034097603459E0684018
chr1176037487604204E0684357
chr1176042057604326E0684814
chr1176043857604503E0684994
chr1176046957604794E0685304
chr1176050257605075E0685634
chr1176051247605194E0685733
chr1176065257606575E0687134
chr1176066477606701E0687256
chr1176067137606794E0687322
chr1176070207607434E0687629
chr1176077227608100E0688331
chr1176082547608318E0688863
chr1176084847608534E0689093
chr1176085807608652E0689189
chr1176087227608871E0689331
chr1176090737609196E0689682
chr1176092197609355E0689828
chr1176095127609577E06810121
chr1176096827609722E06810291
chr1176099347609984E06810543
chr1176118217611871E06812430
chr1176119557612021E06812564
chr1176124837612674E06813092
chr1176128127612873E06813421
chr1176129107613092E06813519
chr1176131357613189E06813744
chr1176132647613403E06813873
chr1176134367613556E06814045
chr1176137107613835E06814319
chr1176139977614323E06814606
chr1176143257614530E06814934
chr1176162167616599E06816825
chr1176166757617047E06817284
chr1176211857621283E06821794
chr1176213657622368E06821974
chr1176224257622773E06823034
chr1176376417637816E06838250
chr1175562697556324E069-43067
chr1175592417560431E069-38960
chr1175604767560681E069-38710
chr1175756567575709E069-23682
chr1175758677575927E069-23464
chr1175759777576041E069-23350
chr1175761757576818E069-22573
chr1175768447576915E069-22476
chr1175769867577268E069-22123
chr1175844037584587E069-14804
chr1175845957584883E069-14508
chr1175849847585043E069-14348
chr1175903997590551E069-8840
chr1175920077594023E069-5368
chr1175947887595568E069-3823
chr1175955807595664E069-3727
chr1175958297596094E069-3297
chr1175961137596327E069-3064
chr1175963937596802E069-2589
chr1176002157600289E069824
chr1176004617601123E0691070
chr1176013807601439E0691989
chr1176015837601633E0692192
chr1176016737601743E0692282
chr1176021687602222E0692777
chr1176022267602365E0692835
chr1176024037602914E0693012
chr1176034097603459E0694018
chr1176037487604204E0694357
chr1176042057604326E0694814
chr1176043857604503E0694994
chr1176046957604794E0695304
chr1176050257605075E0695634
chr1176051247605194E0695733
chr1176061937606238E0696802
chr1176063097606438E0696918
chr1176065257606575E0697134
chr1176066477606701E0697256
chr1176067137606794E0697322
chr1176070207607434E0697629
chr1176077227608100E0698331
chr1176082547608318E0698863
chr1176084847608534E0699093
chr1176085807608652E0699189
chr1176087227608871E0699331
chr1176092197609355E0699828
chr1176096827609722E06910291
chr1176099347609984E06910543
chr1176110017611760E06911610
chr1176118217611871E06912430
chr1176119557612021E06912564
chr1176124837612674E06913092
chr1176128127612873E06913421
chr1176129107613092E06913519
chr1176131357613189E06913744
chr1176132647613403E06913873
chr1176134367613556E06914045
chr1176137107613835E06914319
chr1176139977614323E06914606
chr1176143257614530E06914934
chr1176146337614743E06915242
chr1176148397614947E06915448
chr1176162167616599E06916825
chr1176166757617047E06917284
chr1176172897617571E06917898
chr1176197317620312E06920340
chr1176203847620434E06920993
chr1176205217620697E06921130
chr1176211857621283E06921794
chr1176213657622368E06921974
chr1176224257622773E06923034
chr1176228997622949E06923508
chr1176233467623493E06923955
chr1176235267623627E06924135
chr1176263617627400E06926970
chr1176300957630202E06930704
chr1176303277630516E06930936
chr1176305927630703E06931201
chr1175628427563003E070-36388
chr1175631347563274E070-36117
chr1175633697563503E070-35888
chr1175635327563628E070-35763
chr1175637017563745E070-35646
chr1175640807564227E070-35164
chr1175669757567077E070-32314
chr1175671547567242E070-32149
chr1175672547567443E070-31948
chr1175845957584883E070-14508
chr1175849847585043E070-14348
chr1176087227608871E0709331
chr1176090737609196E0709682
chr1175571147557164E071-42227
chr1175571707557220E071-42171
chr1175574047557621E071-41770
chr1175576347557694E071-41697
chr1175581427558213E071-41178
chr1175582827558342E071-41049
chr1175583667558435E071-40956
chr1175586107558758E071-40633
chr1175590177559229E071-40162
chr1175592417560431E071-38960
chr1175604767560681E071-38710
chr1175640807564227E071-35164
chr1175645697564668E071-34723
chr1175647007564789E071-34602
chr1175648427564915E071-34476
chr1175753687575503E071-23888
chr1175756567575709E071-23682
chr1175758677575927E071-23464
chr1175759777576041E071-23350
chr1175761757576818E071-22573
chr1175768447576915E071-22476
chr1175769867577268E071-22123
chr1175805757580717E071-18674
chr1175844037584587E071-14804
chr1175845957584883E071-14508
chr1175849847585043E071-14348
chr1175903997590551E071-8840
chr1175920077594023E071-5368
chr1175940497594226E071-5165
chr1175942997594631E071-4760
chr1175946777594785E071-4606
chr1175947887595568E071-3823
chr1175955807595664E071-3727
chr1175958297596094E071-3297
chr1175961137596327E071-3064
chr1175963937596802E071-2589
chr1176002157600289E071824
chr1176004617601123E0711070
chr1176013807601439E0711989
chr1176015837601633E0712192
chr1176016737601743E0712282
chr1176021687602222E0712777
chr1176022267602365E0712835
chr1176024037602914E0713012
chr1176034097603459E0714018
chr1176037487604204E0714357
chr1176042057604326E0714814
chr1176043857604503E0714994
chr1176046957604794E0715304
chr1176050257605075E0715634
chr1176051247605194E0715733
chr1176061937606238E0716802
chr1176063097606438E0716918
chr1176065257606575E0717134
chr1176066477606701E0717256
chr1176067137606794E0717322
chr1176070207607434E0717629
chr1176077227608100E0718331
chr1176082547608318E0718863
chr1176084847608534E0719093
chr1176085807608652E0719189
chr1176087227608871E0719331
chr1176090737609196E0719682
chr1176092197609355E0719828
chr1176099347609984E07110543
chr1176110017611760E07111610
chr1176118217611871E07112430
chr1176119557612021E07112564
chr1176124837612674E07113092
chr1176128127612873E07113421
chr1176129107613092E07113519
chr1176131357613189E07113744
chr1176132647613403E07113873
chr1176134367613556E07114045
chr1176137107613835E07114319
chr1176139977614323E07114606
chr1176143257614530E07114934
chr1176146337614743E07115242
chr1176148397614947E07115448
chr1176160397616089E07116648
chr1176162167616599E07116825
chr1176166757617047E07117284
chr1176172897617571E07117898
chr1176203847620434E07120993
chr1176205217620697E07121130
chr1176211857621283E07121794
chr1176213657622368E07121974
chr1176224257622773E07123034
chr1176263617627400E07126970
chr1176332587634760E07133867
chr1176347767634904E07135385
chr1175536007553756E072-45635
chr1175537647553872E072-45519
chr1175539257554054E072-45337
chr1175540927554240E072-45151
chr1175544067554456E072-44935
chr1175544767554526E072-44865
chr1175545777554692E072-44699
chr1175590177559229E072-40162
chr1175592417560431E072-38960
chr1175604767560681E072-38710
chr1175674587568144E072-31247
chr1175756567575709E072-23682
chr1175758677575927E072-23464
chr1175759777576041E072-23350
chr1175761757576818E072-22573
chr1175768447576915E072-22476
chr1175769867577268E072-22123
chr1175903997590551E072-8840
chr1175920077594023E072-5368
chr1175955807595664E072-3727
chr1175958297596094E072-3297
chr1175961137596327E072-3064
chr1175963937596802E072-2589
chr1176004617601123E0721070
chr1176013807601439E0721989
chr1176015837601633E0722192
chr1176016737601743E0722282
chr1176021687602222E0722777
chr1176022267602365E0722835
chr1176024037602914E0723012
chr1176034097603459E0724018
chr1176037487604204E0724357
chr1176042057604326E0724814
chr1176043857604503E0724994
chr1176046957604794E0725304
chr1176050257605075E0725634
chr1176051247605194E0725733
chr1176061937606238E0726802
chr1176063097606438E0726918
chr1176065257606575E0727134
chr1176066477606701E0727256
chr1176067137606794E0727322
chr1176070207607434E0727629
chr1176077227608100E0728331
chr1176082547608318E0728863
chr1176084847608534E0729093
chr1176085807608652E0729189
chr1176087227608871E0729331
chr1176090737609196E0729682
chr1176092197609355E0729828
chr1176095127609577E07210121
chr1176096827609722E07210291
chr1176099347609984E07210543
chr1176118217611871E07212430
chr1176119557612021E07212564
chr1176124837612674E07213092
chr1176128127612873E07213421
chr1176129107613092E07213519
chr1176131357613189E07213744
chr1176132647613403E07213873
chr1176134367613556E07214045
chr1176137107613835E07214319
chr1176139977614323E07214606
chr1176143257614530E07214934
chr1176146337614743E07215242
chr1176148397614947E07215448
chr1176162167616599E07216825
chr1176166757617047E07217284
chr1176172897617571E07217898
chr1176203847620434E07220993
chr1176205217620697E07221130
chr1176211857621283E07221794
chr1176213657622368E07221974
chr1176224257622773E07223034
chr1176228997622949E07223508
chr1176263617627400E07226970
chr1176300957630202E07230704
chr1176303277630516E07230936
chr1176305927630703E07231201
chr1176332587634760E07233867
chr1176347767634904E07235385
chr1175581427558213E073-41178
chr1175761757576818E073-22573
chr1175844037584587E073-14804
chr1175845957584883E073-14508
chr1175849847585043E073-14348
chr1175903997590551E073-8840
chr1175920077594023E073-5368
chr1175940497594226E073-5165
chr1175947887595568E073-3823
chr1175955807595664E073-3727
chr1176004617601123E0731070
chr1176013807601439E0731989
chr1176015837601633E0732192
chr1176016737601743E0732282
chr1176021687602222E0732777
chr1176022267602365E0732835
chr1176024037602914E0733012
chr1176034097603459E0734018
chr1176037487604204E0734357
chr1176042057604326E0734814
chr1176043857604503E0734994
chr1176061937606238E0736802
chr1176063097606438E0736918
chr1176065257606575E0737134
chr1176066477606701E0737256
chr1176067137606794E0737322
chr1176070207607434E0737629
chr1176077227608100E0738331
chr1176082547608318E0738863
chr1176084847608534E0739093
chr1176085807608652E0739189
chr1176087227608871E0739331
chr1176090737609196E0739682
chr1176092197609355E0739828
chr1176095127609577E07310121
chr1176124837612674E07313092
chr1176128127612873E07313421
chr1176129107613092E07313519
chr1176131357613189E07313744
chr1176132647613403E07313873
chr1176134367613556E07314045
chr1176137107613835E07314319
chr1176139977614323E07314606
chr1176148397614947E07315448
chr1176162167616599E07316825
chr1176166757617047E07317284
chr1176213657622368E07321974
chr1176224257622773E07323034
chr1175563557556405E074-42986
chr1175566057556838E074-42553
chr1175569117556980E074-42411
chr1175571147557164E074-42227
chr1175571707557220E074-42171
chr1175574047557621E074-41770
chr1175576347557694E074-41697
chr1175581427558213E074-41178
chr1175582827558342E074-41049
chr1175583667558435E074-40956
chr1175586107558758E074-40633
chr1175590177559229E074-40162
chr1175592417560431E074-38960
chr1175604767560681E074-38710
chr1175612877561327E074-38064
chr1175645697564668E074-34723
chr1175647007564789E074-34602
chr1175648427564915E074-34476
chr1175650867565648E074-33743
chr1175671547567242E074-32149
chr1175672547567443E074-31948
chr1175753687575503E074-23888
chr1175756567575709E074-23682
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