rs9653414

Homo sapiens
G>A
ANAPC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0436 (12420/28426,GnomAD)
G==0438 (2193/5008,1000G)
G==0352 (1358/3854,ALSPAC)
G==0351 (1303/3708,TWINSUK)
chr2:111877160 (GRCh38.p7) (2q13)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.111877160G>A
GRCh37.p13 chr 2NC_000002.11:g.112634737G>A

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
1000GenomesAfricanSub1322G=0.653A=0.347
1000GenomesAmericanSub694G=0.330A=0.670
1000GenomesEast AsianSub1008G=0.434A=0.566
1000GenomesEuropeSub1006G=0.338A=0.662
1000GenomesGlobalStudy-wide5008G=0.438A=0.562
1000GenomesSouth AsianSub978G=0.330A=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.352A=0.648
The Genome Aggregation DatabaseAfricanSub8322G=0.613A=0.387
The Genome Aggregation DatabaseAmericanSub790G=0.370A=0.630
The Genome Aggregation DatabaseEast AsianSub1464G=0.425A=0.575
The Genome Aggregation DatabaseEuropeSub17556G=0.357A=0.642
The Genome Aggregation DatabaseGlobalStudy-wide28426G=0.436A=0.563
The Genome Aggregation DatabaseOtherSub294G=0.430A=0.570
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.351A=0.649
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
rs96534147.99E-06nicotine dependence (smoking)22377092

eQTL of rs9653414 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 rs9653414 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 )
chr2112662355112662405E06727618
chr2112662482112662607E06727745
chr2112662615112662865E06727878
chr2112663438112663561E06728701
chr2112663657112663831E06728920
chr2112663904112664316E06729167
chr2112664393112664451E06729656
chr2112664507112664640E06729770
chr2112666288112666435E06731551
chr2112684443112684531E06749706
chr2112684568112684665E06749831
chr2112659975112660088E06825238
chr2112660672112660798E06825935
chr2112661683112661854E06826946
chr2112662355112662405E06827618
chr2112662482112662607E06827745
chr2112662615112662865E06827878
chr2112663438112663561E06828701
chr2112664393112664451E06829656
chr2112664507112664640E06829770
chr2112665302112665356E06830565
chr2112665693112665840E06830956
chr2112666036112666096E06831299
chr2112666288112666435E06831551
chr2112666743112667060E06832006
chr2112667238112667300E06832501
chr2112668366112668416E06833629
chr2112668498112668758E06833761
chr2112674467112674521E06839730
chr2112675898112676416E06841161
chr2112676442112676526E06841705
chr2112677048112677190E06842311
chr2112677520112677630E06842783
chr2112677639112677693E06842902
chr2112677749112678135E06843012
chr2112680927112681182E06846190
chr2112682329112682529E06847592
chr2112684229112684360E06849492
chr2112684443112684531E06849706
chr2112684568112684665E06849831
chr2112659975112660088E06925238
chr2112660672112660798E06925935
chr2112661492112661618E06926755
chr2112661683112661854E06926946
chr2112662355112662405E06927618
chr2112662482112662607E06927745
chr2112662615112662865E06927878
chr2112663438112663561E06928701
chr2112664393112664451E06929656
chr2112664507112664640E06929770
chr2112665302112665356E06930565
chr2112665693112665840E06930956
chr2112666036112666096E06931299
chr2112666288112666435E06931551
chr2112667238112667300E06932501
chr2112667638112667798E06932901
chr2112668366112668416E06933629
chr2112668498112668758E06933761
chr2112677520112677630E06942783
chr2112677639112677693E06942902
chr2112684443112684531E06949706
chr2112684568112684665E06949831
chr2112640403112640487E0705666
chr2112660672112660798E07125935
chr2112661683112661854E07126946
chr2112662355112662405E07127618
chr2112662482112662607E07127745
chr2112662615112662865E07127878
chr2112663438112663561E07128701
chr2112665693112665840E07130956
chr2112666036112666096E07131299
chr2112666743112667060E07132006
chr2112667238112667300E07132501
chr2112667638112667798E07132901
chr2112668366112668416E07133629
chr2112668498112668758E07133761
chr2112675898112676416E07141161
chr2112676442112676526E07141705
chr2112677048112677190E07142311
chr2112677520112677630E07142783
chr2112677639112677693E07142902
chr2112684443112684531E07149706
chr2112684568112684665E07149831
chr2112664393112664451E07229656
chr2112664507112664640E07229770
chr2112666036112666096E07231299
chr2112666288112666435E07231551
chr2112684443112684531E07249706
chr2112684568112684665E07249831
chr2112659975112660088E07325238
chr2112660672112660798E07325935
chr2112661492112661618E07326755
chr2112661683112661854E07326946
chr2112662355112662405E07327618
chr2112662482112662607E07327745
chr2112662615112662865E07327878
chr2112663438112663561E07328701
chr2112663657112663831E07328920
chr2112663904112664316E07329167
chr2112664393112664451E07329656
chr2112664507112664640E07329770
chr2112665693112665840E07330956
chr2112666036112666096E07331299
chr2112666288112666435E07331551
chr2112668366112668416E07333629
chr2112668498112668758E07333761
chr2112674467112674521E07339730
chr2112675898112676416E07341161
chr2112676442112676526E07341705
chr2112677048112677190E07342311
chr2112677520112677630E07342783
chr2112677639112677693E07342902
chr2112677749112678135E07343012
chr2112684229112684360E07349492
chr2112684443112684531E07349706
chr2112684568112684665E07349831
chr2112640403112640487E0745666
chr2112645268112645715E07410531
chr2112661492112661618E07426755
chr2112661683112661854E07426946
chr2112662355112662405E07427618
chr2112662482112662607E07427745
chr2112662615112662865E07427878
chr2112663438112663561E07428701
chr2112663657112663831E07428920
chr2112664393112664451E07429656
chr2112665693112665840E07430956
chr2112666036112666096E07431299
chr2112666288112666435E07431551
chr2112668366112668416E07433629
chr2112668498112668758E07433761
chr2112677048112677190E07442311
chr2112677520112677630E07442783
chr2112677639112677693E07442902
chr2112677749112678135E07443012
chr2112684443112684531E07449706
chr2112684568112684665E07449831
chr2112640403112640487E0815666
chr2112662355112662405E08127618
chr2112662482112662607E08127745
chr2112662615112662865E08127878
chr2112663438112663561E08228701
chr2112663657112663831E08228920
chr2112663904112664316E08229167










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2112641143112642486E0676406
chr2112642535112642613E0677798
chr2112655301112657220E06720564
chr2112657359112657519E06722622
chr2112657571112657645E06722834
chr2112657763112657813E06723026
chr2112641143112642486E0686406
chr2112642535112642613E0687798
chr2112655301112657220E06820564
chr2112657359112657519E06822622
chr2112657571112657645E06822834
chr2112657763112657813E06823026
chr2112657931112657985E06823194
chr2112641143112642486E0696406
chr2112655301112657220E06920564
chr2112657359112657519E06922622
chr2112657571112657645E06922834
chr2112657763112657813E06923026
chr2112657931112657985E06923194
chr2112641143112642486E0706406
chr2112642535112642613E0707798
chr2112657359112657519E07022622
chr2112641143112642486E0716406
chr2112642535112642613E0717798
chr2112655301112657220E07120564
chr2112657359112657519E07122622
chr2112657571112657645E07122834
chr2112657763112657813E07123026
chr2112657931112657985E07123194
chr2112641143112642486E0726406
chr2112655301112657220E07220564
chr2112657359112657519E07222622
chr2112657571112657645E07222834
chr2112657763112657813E07223026
chr2112657931112657985E07223194
chr2112641143112642486E0736406
chr2112655301112657220E07320564
chr2112657359112657519E07322622
chr2112657571112657645E07322834
chr2112657763112657813E07323026
chr2112657931112657985E07323194
chr2112641143112642486E0746406
chr2112655301112657220E07420564
chr2112657359112657519E07422622
chr2112657571112657645E07422834
chr2112657763112657813E07423026
chr2112657931112657985E07423194
chr2112641143112642486E0816406
chr2112641143112642486E0826406
chr2112642535112642613E0827798
chr2112655301112657220E08220564
chr2112657359112657519E08222622