rs2214783

Homo sapiens
C>A
PDE1C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0172 (5164/29886,GnomAD)
A=0191 (5584/29118,TOPMED)
A=0215 (1077/5008,1000G)
A=0100 (385/3854,ALSPAC)
A=0097 (358/3708,TWINSUK)
chr7:32043563 (GRCh38.p7) (7p14.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.32043563C>A
GRCh37.p13 chr 7NC_000007.13:g.32083175C>A

Gene: PDE1C, phosphodiesterase 1C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDE1C transcript variant 1NM_001191056.3:c.N/AIntron Variant
PDE1C transcript variant 2NM_001191057.3:c.N/AIntron Variant
PDE1C transcript variant 3NM_001191058.3:c.N/AIntron Variant
PDE1C transcript variant 5NM_001191059.3:c.N/AIntron Variant
PDE1C transcript variant 6NM_001322055.1:c.N/AIntron Variant
PDE1C transcript variant 7NM_001322056.1:c.N/AIntron Variant
PDE1C transcript variant 8NM_001322057.1:c.N/AIntron Variant
PDE1C transcript variant 9NM_001322058.1:c.N/AIntron Variant
PDE1C transcript variant 10NM_001322059.1:c.N/AIntron Variant
PDE1C transcript variant 4NM_005020.4:c.N/AIntron Variant
PDE1C transcript variant X1XM_017012264.1:c.N/AIntron Variant
PDE1C transcript variant X4XM_017012265.1:c.N/AIntron Variant
PDE1C transcript variant X5XM_017012266.1:c.N/AIntron Variant
PDE1C transcript variant X6XM_017012267.1:c.N/AIntron Variant
PDE1C transcript variant X2XR_001744802.1:n.N/AIntron Variant
PDE1C transcript variant X3XR_001744803.1:n.N/AIntron Variant
PDE1C transcript variant X7XR_001744804.1:n.N/AIntron Variant
PDE1C transcript variant X8XR_001744805.1:n.N/AIntron Variant
PDE1C transcript variant X9XR_001744806.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.654A=0.346
1000GenomesAmericanSub694C=0.890A=0.110
1000GenomesEast AsianSub1008C=0.703A=0.297
1000GenomesEuropeSub1006C=0.888A=0.112
1000GenomesGlobalStudy-wide5008C=0.785A=0.215
1000GenomesSouth AsianSub978C=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.900A=0.100
The Genome Aggregation DatabaseAfricanSub8678C=0.688A=0.312
The Genome Aggregation DatabaseAmericanSub834C=0.850A=0.150
The Genome Aggregation DatabaseEast AsianSub1598C=0.689A=0.311
The Genome Aggregation DatabaseEuropeSub18474C=0.902A=0.097
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.827A=0.172
The Genome Aggregation DatabaseOtherSub302C=0.900A=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.808A=0.191
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.903A=0.097
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs22147830.000508nicotine smoking19268276

eQTL of rs2214783 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 rs2214783 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 )
chr73203507432036005E067-47170
chr73203708732037239E067-45936
chr73206491632065299E067-17876
chr73206534332065479E067-17696
chr73206548832065908E067-17267
chr73207192632072047E067-11128
chr73207241532072465E067-10710
chr73207249132072632E067-10543
chr73207273532072879E067-10296
chr73207300832073048E067-10127
chr73207327232073324E067-9851
chr73207876032078831E067-4344
chr73207898832079038E067-4137
chr73207911832079213E067-3962
chr73207923932079374E067-3801
chr73208872932088873E0675554
chr73208889732089025E0675722
chr73209096932091126E0677794
chr73209296032093048E0679785
chr73209457132094673E06711396
chr73209488132094979E06711706
chr73209498732095045E06711812
chr73209572332095814E06712548
chr73209583032096001E06712655
chr73209610232096163E06712927
chr73209625232096316E06713077
chr73209646732096666E06713292
chr73209707132097151E06713896
chr73209729532097349E06714120
chr73209748532097945E06714310
chr73209798332098075E06714808
chr73209980832099860E06716633
chr73209987932100027E06716704
chr73210012632100188E06716951
chr73210050132100551E06717326
chr73210107732101127E06717902
chr73210125532101325E06718080
chr73210161732101661E06718442
chr73210172332102255E06718548
chr73211319032113419E06730015
chr73211351732113584E06730342
chr73211364432113701E06730469
chr73211372532113897E06730550
chr73211393632114060E06730761
chr73211407832114223E06730903
chr73211426332114366E06731088
chr73211439032114592E06731215
chr73211464932114730E06731474
chr73211475432114840E06731579
chr73211488932115137E06731714
chr73211560432115713E06732429
chr73211752332117623E06734348
chr73203507432036005E068-47170
chr73203602932036181E068-46994
chr73203708732037239E068-45936
chr73206491632065299E068-17876
chr73206534332065479E068-17696
chr73207060132070805E068-12370
chr73207102932071207E068-11968
chr73207192632072047E068-11128
chr73207241532072465E068-10710
chr73207249132072632E068-10543
chr73207273532072879E068-10296
chr73207300832073048E068-10127
chr73207327232073324E068-9851
chr73207876032078831E068-4344
chr73207898832079038E068-4137
chr73208750632087573E0684331
chr73208758832087652E0684413
chr73208801032088103E0684835
chr73208821032088260E0685035
chr73208872932088873E0685554
chr73208889732089025E0685722
chr73208945032089543E0686275
chr73209096932091126E0687794
chr73209296032093048E0689785
chr73209457132094673E06811396
chr73209488132094979E06811706
chr73209498732095045E06811812
chr73209522832095278E06812053
chr73209572332095814E06812548
chr73209583032096001E06812655
chr73209610232096163E06812927
chr73209625232096316E06813077
chr73209646732096666E06813292
chr73209707132097151E06813896
chr73209729532097349E06814120
chr73209748532097945E06814310
chr73209798332098075E06814808
chr73209869832098769E06815523
chr73209980832099860E06816633
chr73209987932100027E06816704
chr73210012632100188E06816951
chr73210050132100551E06817326
chr73210107732101127E06817902
chr73210125532101325E06818080
chr73210161732101661E06818442
chr73210172332102255E06818548
chr73210658932106657E06823414
chr73211319032113419E06830015
chr73211351732113584E06830342
chr73211364432113701E06830469
chr73211372532113897E06830550
chr73211752332117623E06834348
chr73211806432118114E06834889
chr73211815932118213E06834984
chr73203507432036005E069-47170
chr73203602932036181E069-46994
chr73203708732037239E069-45936
chr73206455732064708E069-18467
chr73206491632065299E069-17876
chr73206534332065479E069-17696
chr73206548832065908E069-17267
chr73207060132070805E069-12370
chr73207102932071207E069-11968
chr73207192632072047E069-11128
chr73207241532072465E069-10710
chr73207249132072632E069-10543
chr73207273532072879E069-10296
chr73207300832073048E069-10127
chr73207327232073324E069-9851
chr73207342832073478E069-9697
chr73207371332073921E069-9254
chr73207401132074056E069-9119
chr73207409832074180E069-8995
chr73207472132074894E069-8281
chr73207559132075669E069-7506
chr73208821032088260E0695035
chr73208872932088873E0695554
chr73208889732089025E0695722
chr73208945032089543E0696275
chr73209096932091126E0697794
chr73209457132094673E06911396
chr73209488132094979E06911706
chr73209498732095045E06911812
chr73209522832095278E06912053
chr73209583032096001E06912655
chr73209610232096163E06912927
chr73209625232096316E06913077
chr73209646732096666E06913292
chr73209707132097151E06913896
chr73209729532097349E06914120
chr73209748532097945E06914310
chr73209869832098769E06915523
chr73210012632100188E06916951
chr73210050132100551E06917326
chr73210107732101127E06917902
chr73210125532101325E06918080
chr73210304732103097E06919872
chr73210381732103994E06920642
chr73210416432104214E06920989
chr73210583532105885E06922660
chr73210617532106240E06923000
chr73211319032113419E06930015
chr73211351732113584E06930342
chr73211364432113701E06930469
chr73211372532113897E06930550
chr73211393632114060E06930761
chr73211407832114223E06930903
chr73211426332114366E06931088
chr73211560432115713E06932429
chr73211649332116569E06933318
chr73211659532116658E06933420
chr73211806432118114E06934889
chr73211815932118213E06934984
chr73206286432063083E070-20092
chr73206308932063234E070-19941
chr73206334032063434E070-19741
chr73206455732064708E070-18467
chr73206491632065299E070-17876
chr73206534332065479E070-17696
chr73206548832065908E070-17267
chr73209707132097151E07013896
chr73209729532097349E07014120
chr73209898932099807E07015814
chr73209980832099860E07016633
chr73209987932100027E07016704
chr73203507432036005E071-47170
chr73203602932036181E071-46994
chr73203708732037239E071-45936
chr73206262332062851E071-20324
chr73206286432063083E071-20092
chr73206308932063234E071-19941
chr73206334032063434E071-19741
chr73206491632065299E071-17876
chr73206534332065479E071-17696
chr73206548832065908E071-17267
chr73207060132070805E071-12370
chr73207102932071207E071-11968
chr73207192632072047E071-11128
chr73207241532072465E071-10710
chr73207249132072632E071-10543
chr73207273532072879E071-10296
chr73207300832073048E071-10127
chr73207327232073324E071-9851
chr73207342832073478E071-9697
chr73207371332073921E071-9254
chr73207401132074056E071-9119
chr73207409832074180E071-8995
chr73207472132074894E071-8281
chr73207846832078545E071-4630
chr73207876032078831E071-4344
chr73207898832079038E071-4137
chr73207911832079213E071-3962
chr73207923932079374E071-3801
chr73208269532082898E071-277
chr73208342232083561E071247
chr73208429632084346E0711121
chr73208435632084537E0711181
chr73208455932084791E0711384
chr73208480832084931E0711633
chr73208493932085101E0711764
chr73208750632087573E0714331
chr73208758832087652E0714413
chr73208801032088103E0714835
chr73208821032088260E0715035
chr73208872932088873E0715554
chr73208889732089025E0715722
chr73208945032089543E0716275
chr73209096932091126E0717794
chr73209296032093048E0719785
chr73209457132094673E07111396
chr73209488132094979E07111706
chr73209498732095045E07111812
chr73209522832095278E07112053
chr73209572332095814E07112548
chr73209583032096001E07112655
chr73209610232096163E07112927
chr73209625232096316E07113077
chr73209646732096666E07113292
chr73209707132097151E07113896
chr73209729532097349E07114120
chr73209748532097945E07114310
chr73210050132100551E07117326
chr73210107732101127E07117902
chr73210125532101325E07118080
chr73210161732101661E07118442
chr73210172332102255E07118548
chr73210257332102710E07119398
chr73210304732103097E07119872
chr73210381732103994E07120642
chr73210416432104214E07120989
chr73210536332105423E07122188
chr73210583532105885E07122660
chr73210617532106240E07123000
chr73211319032113419E07130015
chr73211351732113584E07130342
chr73211364432113701E07130469
chr73211372532113897E07130550
chr73211393632114060E07130761
chr73211407832114223E07130903
chr73211426332114366E07131088
chr73211439032114592E07131215
chr73211560432115713E07132429
chr73211649332116569E07133318
chr73211659532116658E07133420
chr73211752332117623E07134348
chr73211806432118114E07134889
chr73211815932118213E07134984
chr73211857132118713E07135396
chr73211920232119442E07136027
chr73212795032128333E07144775
chr73212837832128608E07145203
chr73203708732037239E072-45936
chr73206455732064708E072-18467
chr73206491632065299E072-17876
chr73206534332065479E072-17696
chr73206548832065908E072-17267
chr73207192632072047E072-11128
chr73207241532072465E072-10710
chr73207249132072632E072-10543
chr73207273532072879E072-10296
chr73207300832073048E072-10127
chr73207371332073921E072-9254
chr73207401132074056E072-9119
chr73207409832074180E072-8995
chr73207876032078831E072-4344
chr73207898832079038E072-4137
chr73207911832079213E072-3962
chr73207923932079374E072-3801
chr73208069732080747E072-2428
chr73208075732080807E072-2368
chr73208217232082222E072-953
chr73208231832082398E072-777
chr73208269532082898E072-277
chr73208342232083561E072247
chr73208872932088873E0725554
chr73208889732089025E0725722
chr73208945032089543E0726275
chr73209296032093048E0729785
chr73209457132094673E07211396
chr73209488132094979E07211706
chr73209498732095045E07211812
chr73209522832095278E07212053
chr73209572332095814E07212548
chr73209583032096001E07212655
chr73209610232096163E07212927
chr73209625232096316E07213077
chr73209646732096666E07213292
chr73209707132097151E07213896
chr73209729532097349E07214120
chr73209748532097945E07214310
chr73209798332098075E07214808
chr73209869832098769E07215523
chr73210050132100551E07217326
chr73210107732101127E07217902
chr73210125532101325E07218080
chr73210161732101661E07218442
chr73210172332102255E07218548
chr73210658932106657E07223414
chr73211364432113701E07230469
chr73211372532113897E07230550
chr73211393632114060E07230761
chr73211407832114223E07230903
chr73211488932115137E07231714
chr73211560432115713E07232429
chr73211649332116569E07233318
chr73211659532116658E07233420
chr73211752332117623E07234348
chr73212837832128608E07245203
chr73212863032128765E07245455
chr73203507432036005E073-47170
chr73207060132070805E073-12370
chr73207102932071207E073-11968
chr73209646732096666E07313292
chr73209707132097151E07313896
chr73209729532097349E07314120
chr73210050132100551E07317326
chr73210107732101127E07317902
chr73210125532101325E07318080
chr73210161732101661E07318442
chr73210172332102255E07318548
chr73210617532106240E07323000
chr73210658932106657E07323414
chr73211407832114223E07330903
chr73211426332114366E07331088
chr73211439032114592E07331215
chr73211464932114730E07331474
chr73211475432114840E07331579
chr73211488932115137E07331714
chr73211560432115713E07332429
chr73211649332116569E07333318
chr73211659532116658E07333420
chr73211752332117623E07334348
chr73203507432036005E074-47170
chr73203602932036181E074-46994
chr73203708732037239E074-45936
chr73206534332065479E074-17696
chr73206548832065908E074-17267
chr73207060132070805E074-12370
chr73207102932071207E074-11968
chr73207192632072047E074-11128
chr73207241532072465E074-10710
chr73207249132072632E074-10543
chr73207273532072879E074-10296
chr73207300832073048E074-10127
chr73207327232073324E074-9851
chr73207342832073478E074-9697
chr73207371332073921E074-9254
chr73207401132074056E074-9119
chr73207409832074180E074-8995
chr73207559132075669E074-7506
chr73207625532076513E074-6662
chr73207654532076709E074-6466
chr73207846832078545E074-4630
chr73207876032078831E074-4344
chr73207898832079038E074-4137
chr73207911832079213E074-3962
chr73207923932079374E074-3801
chr73208069732080747E074-2428
chr73208075732080807E074-2368
chr73208217232082222E074-953
chr73208231832082398E074-777
chr73208269532082898E074-277
chr73208480832084931E0741633
chr73208493932085101E0741764
chr73208801032088103E0744835
chr73208821032088260E0745035
chr73208872932088873E0745554
chr73208889732089025E0745722
chr73208945032089543E0746275
chr73209096932091126E0747794
chr73209296032093048E0749785
chr73209457132094673E07411396
chr73209488132094979E07411706
chr73209498732095045E07411812
chr73209522832095278E07412053
chr73209572332095814E07412548
chr73209583032096001E07412655
chr73209610232096163E07412927
chr73209625232096316E07413077
chr73209646732096666E07413292
chr73209707132097151E07413896
chr73209729532097349E07414120
chr73209748532097945E07414310
chr73209798332098075E07414808
chr73209869832098769E07415523
chr73209987932100027E07416704
chr73210012632100188E07416951
chr73210050132100551E07417326
chr73210107732101127E07417902
chr73210125532101325E07418080
chr73210381732103994E07420642
chr73210416432104214E07420989
chr73210536332105423E07422188
chr73210583532105885E07422660
chr73210617532106240E07423000
chr73211319032113419E07430015
chr73211351732113584E07430342
chr73211364432113701E07430469
chr73211372532113897E07430550
chr73211464932114730E07431474
chr73211475432114840E07431579
chr73211488932115137E07431714
chr73211649332116569E07433318
chr73211659532116658E07433420
chr73211752332117623E07434348
chr73211806432118114E07434889
chr73211815932118213E07434984
chr73212795032128333E07444775
chr73212837832128608E07445203
chr73212863032128765E07445455
chr73203427232034417E081-48758
chr73203454032034590E081-48585
chr73203490032035057E081-48118
chr73203507432036005E081-47170
chr73203602932036181E081-46994
chr73206286432063083E081-20092
chr73206308932063234E081-19941
chr73206334032063434E081-19741
chr73206436132064411E081-18764
chr73206455732064708E081-18467
chr73206491632065299E081-17876
chr73206534332065479E081-17696
chr73206548832065908E081-17267
chr73209583032096001E08112655
chr73209610232096163E08112927
chr73209625232096316E08113077
chr73209646732096666E08113292
chr73209707132097151E08113896
chr73209729532097349E08114120
chr73209748532097945E08114310
chr73209798332098075E08114808
chr73209869832098769E08115523
chr73209898932099807E08115814
chr73209980832099860E08116633
chr73209987932100027E08116704
chr73210012632100188E08116951
chr73210050132100551E08117326
chr73210107732101127E08117902
chr73210658932106657E08123414
chr73211364432113701E08130469
chr73203490032035057E082-48118
chr73206286432063083E082-20092
chr73206308932063234E082-19941
chr73206334032063434E082-19741
chr73206491632065299E082-17876
chr73206534332065479E082-17696
chr73206548832065908E082-17267
chr73209572332095814E08212548
chr73209583032096001E08212655
chr73209610232096163E08212927
chr73209625232096316E08213077
chr73209646732096666E08213292
chr73209707132097151E08213896
chr73209729532097349E08214120
chr73209748532097945E08214310
chr73209980832099860E08216633
chr73209987932100027E08216704
chr73210012632100188E08216951










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr73210816432109187E06724989
chr73210927332109575E06726098
chr73210961432111084E06726439
chr73211119232111554E06728017
chr73211160732111680E06728432
chr73210816432109187E06824989
chr73210927332109575E06826098
chr73210961432111084E06826439
chr73211119232111554E06828017
chr73211160732111680E06828432
chr73211182332111992E06828648
chr73211205632112106E06828881
chr73211217032112365E06828995
chr73210762532108000E06924450
chr73210816432109187E06924989
chr73210927332109575E06926098
chr73210961432111084E06926439
chr73211119232111554E06928017
chr73211160732111680E06928432
chr73211182332111992E06928648
chr73211205632112106E06928881
chr73211217032112365E06928995
chr73210762532108000E07124450
chr73210816432109187E07124989
chr73210927332109575E07126098
chr73210961432111084E07126439
chr73211119232111554E07128017
chr73211160732111680E07128432
chr73211182332111992E07128648
chr73211205632112106E07128881
chr73211217032112365E07128995
chr73210762532108000E07224450
chr73210816432109187E07224989
chr73210927332109575E07226098
chr73210961432111084E07226439
chr73211119232111554E07228017
chr73211160732111680E07228432
chr73211182332111992E07228648
chr73211205632112106E07228881
chr73211217032112365E07228995
chr73210816432109187E07324989
chr73210927332109575E07326098
chr73210961432111084E07326439
chr73211119232111554E07328017
chr73211160732111680E07328432
chr73211182332111992E07328648
chr73211205632112106E07328881
chr73211217032112365E07328995
chr73210762532108000E07424450
chr73210816432109187E07424989
chr73210927332109575E07426098
chr73210961432111084E07426439
chr73211119232111554E07428017
chr73211160732111680E07428432
chr73211182332111992E07428648
chr73211205632112106E07428881
chr73211217032112365E07428995
chr73210762532108000E08124450
chr73210816432109187E08124989
chr73210927332109575E08126098
chr73210762532108000E08224450
chr73210816432109187E08224989
chr73210927332109575E08226098
chr73210961432111084E08226439
chr73211119232111554E08228017