rs10197222

Homo sapiens
A>G
ANAPC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0419 (12568/29932,GnomAD)
A==0449 (13074/29116,TOPMED)
A==0436 (2183/5008,1000G)
A==0350 (1348/3854,ALSPAC)
A==0348 (1291/3708,TWINSUK)
chr2:111869646 (GRCh38.p7) (2q13)
ND
GWASdb2
1   publication(s)
See rs on genome
113 Enhancers around
52 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.111869646A>G
GRCh37.p13 chr 2NC_000002.11:g.112627223A>G

Gene: ANAPC1, anaphase promoting complex subunit 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANAPC1 transcriptNM_022662.3:c.N/AIntron Variant
ANAPC1 transcript variant X1XM_011511633.2:c.N/AIntron Variant
ANAPC1 transcript variant X4XM_011511634.2:c.N/AIntron Variant
ANAPC1 transcript variant X9XM_011511636.2:c.N/AIntron Variant
ANAPC1 transcript variant X10XM_011511637.2:c.N/AIntron Variant
ANAPC1 transcript variant X2XM_017004710.1:c.N/AIntron Variant
ANAPC1 transcript variant X3XM_017004711.1:c.N/AIntron Variant
ANAPC1 transcript variant X5XM_017004712.1:c.N/AIntron Variant
ANAPC1 transcript variant X6XM_017004713.1:c.N/AIntron Variant
ANAPC1 transcript variant X7XM_017004714.1:c.N/AIntron Variant
ANAPC1 transcript variant X8XM_017004715.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.635G=0.365
1000GenomesAmericanSub694A=0.340G=0.660
1000GenomesEast AsianSub1008A=0.441G=0.559
1000GenomesEuropeSub1006A=0.339G=0.661
1000GenomesGlobalStudy-wide5008A=0.436G=0.564
1000GenomesSouth AsianSub978A=0.330G=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.350G=0.650
The Genome Aggregation DatabaseAfricanSub8714A=0.576G=0.424
The Genome Aggregation DatabaseAmericanSub834A=0.360G=0.640
The Genome Aggregation DatabaseEast AsianSub1606A=0.412G=0.588
The Genome Aggregation DatabaseEuropeSub18476A=0.349G=0.650
The Genome Aggregation DatabaseGlobalStudy-wide29932A=0.419G=0.580
The Genome Aggregation DatabaseOtherSub302A=0.430G=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.449G=0.551
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.348G=0.652
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs101972228.99E-06nicotine dependence (smoking)22377092

eQTL of rs10197222 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 rs10197222 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 )
chr2112662355112662405E06735132
chr2112662482112662607E06735259
chr2112662615112662865E06735392
chr2112663438112663561E06736215
chr2112663657112663831E06736434
chr2112663904112664316E06736681
chr2112664393112664451E06737170
chr2112664507112664640E06737284
chr2112666288112666435E06739065
chr2112659975112660088E06832752
chr2112660672112660798E06833449
chr2112661683112661854E06834460
chr2112662355112662405E06835132
chr2112662482112662607E06835259
chr2112662615112662865E06835392
chr2112663438112663561E06836215
chr2112664393112664451E06837170
chr2112664507112664640E06837284
chr2112665302112665356E06838079
chr2112665693112665840E06838470
chr2112666036112666096E06838813
chr2112666288112666435E06839065
chr2112666743112667060E06839520
chr2112667238112667300E06840015
chr2112668366112668416E06841143
chr2112668498112668758E06841275
chr2112674467112674521E06847244
chr2112675898112676416E06848675
chr2112676442112676526E06849219
chr2112677048112677190E06849825
chr2112659975112660088E06932752
chr2112660672112660798E06933449
chr2112661492112661618E06934269
chr2112661683112661854E06934460
chr2112662355112662405E06935132
chr2112662482112662607E06935259
chr2112662615112662865E06935392
chr2112663438112663561E06936215
chr2112664393112664451E06937170
chr2112664507112664640E06937284
chr2112665302112665356E06938079
chr2112665693112665840E06938470
chr2112666036112666096E06938813
chr2112666288112666435E06939065
chr2112667238112667300E06940015
chr2112667638112667798E06940415
chr2112668366112668416E06941143
chr2112668498112668758E06941275
chr2112640403112640487E07013180
chr2112660672112660798E07133449
chr2112661683112661854E07134460
chr2112662355112662405E07135132
chr2112662482112662607E07135259
chr2112662615112662865E07135392
chr2112663438112663561E07136215
chr2112665693112665840E07138470
chr2112666036112666096E07138813
chr2112666743112667060E07139520
chr2112667238112667300E07140015
chr2112667638112667798E07140415
chr2112668366112668416E07141143
chr2112668498112668758E07141275
chr2112675898112676416E07148675
chr2112676442112676526E07149219
chr2112677048112677190E07149825
chr2112664393112664451E07237170
chr2112664507112664640E07237284
chr2112666036112666096E07238813
chr2112666288112666435E07239065
chr2112659975112660088E07332752
chr2112660672112660798E07333449
chr2112661492112661618E07334269
chr2112661683112661854E07334460
chr2112662355112662405E07335132
chr2112662482112662607E07335259
chr2112662615112662865E07335392
chr2112663438112663561E07336215
chr2112663657112663831E07336434
chr2112663904112664316E07336681
chr2112664393112664451E07337170
chr2112664507112664640E07337284
chr2112665693112665840E07338470
chr2112666036112666096E07338813
chr2112666288112666435E07339065
chr2112668366112668416E07341143
chr2112668498112668758E07341275
chr2112674467112674521E07347244
chr2112675898112676416E07348675
chr2112676442112676526E07349219
chr2112677048112677190E07349825
chr2112640403112640487E07413180
chr2112645268112645715E07418045
chr2112661492112661618E07434269
chr2112661683112661854E07434460
chr2112662355112662405E07435132
chr2112662482112662607E07435259
chr2112662615112662865E07435392
chr2112663438112663561E07436215
chr2112663657112663831E07436434
chr2112664393112664451E07437170
chr2112665693112665840E07438470
chr2112666036112666096E07438813
chr2112666288112666435E07439065
chr2112668366112668416E07441143
chr2112668498112668758E07441275
chr2112677048112677190E07449825
chr2112640403112640487E08113180
chr2112662355112662405E08135132
chr2112662482112662607E08135259
chr2112662615112662865E08135392
chr2112663438112663561E08236215
chr2112663657112663831E08236434
chr2112663904112664316E08236681










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2112641143112642486E06713920
chr2112642535112642613E06715312
chr2112655301112657220E06728078
chr2112657359112657519E06730136
chr2112657571112657645E06730348
chr2112657763112657813E06730540
chr2112641143112642486E06813920
chr2112642535112642613E06815312
chr2112655301112657220E06828078
chr2112657359112657519E06830136
chr2112657571112657645E06830348
chr2112657763112657813E06830540
chr2112657931112657985E06830708
chr2112641143112642486E06913920
chr2112655301112657220E06928078
chr2112657359112657519E06930136
chr2112657571112657645E06930348
chr2112657763112657813E06930540
chr2112657931112657985E06930708
chr2112641143112642486E07013920
chr2112642535112642613E07015312
chr2112657359112657519E07030136
chr2112641143112642486E07113920
chr2112642535112642613E07115312
chr2112655301112657220E07128078
chr2112657359112657519E07130136
chr2112657571112657645E07130348
chr2112657763112657813E07130540
chr2112657931112657985E07130708
chr2112641143112642486E07213920
chr2112655301112657220E07228078
chr2112657359112657519E07230136
chr2112657571112657645E07230348
chr2112657763112657813E07230540
chr2112657931112657985E07230708
chr2112641143112642486E07313920
chr2112655301112657220E07328078
chr2112657359112657519E07330136
chr2112657571112657645E07330348
chr2112657763112657813E07330540
chr2112657931112657985E07330708
chr2112641143112642486E07413920
chr2112655301112657220E07428078
chr2112657359112657519E07430136
chr2112657571112657645E07430348
chr2112657763112657813E07430540
chr2112657931112657985E07430708
chr2112641143112642486E08113920
chr2112641143112642486E08213920
chr2112642535112642613E08215312
chr2112655301112657220E08228078
chr2112657359112657519E08230136