rs3814026

Homo sapiens
T>C
ANAPC1 : 5 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0436 (13061/29916,GnomAD)
T==0367 (10711/29116,TOPMED)
T==0412 (2063/5008,1000G)
C=0499 (1925/3854,ALSPAC)
T==0482 (1786/3708,TWINSUK)
chr2:111884089 (GRCh38.p7) (2q13)
ND
GWASdb2
2   publication(s)
See rs on genome
158 Enhancers around
52 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.111884089T>C
GRCh37.p13 chr 2NC_000002.11:g.112641666T>C

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

Molecule type Change Amino acid[Codon] SO Term
ANAPC1 transcriptNM_022662.3:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X1XM_011511633.2:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X2XM_017004710.1:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X3XM_017004711.1:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X4XM_011511634.2:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X5XM_017004712.1:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X6XM_017004713.1:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X7XM_017004714.1:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X8XM_017004715.1:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X9XM_011511636.2:c.N/A5 Prime UTR Variant
ANAPC1 transcript variant X10XM_011511637.2:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.259C=0.741
1000GenomesAmericanSub694T=0.390C=0.610
1000GenomesEast AsianSub1008T=0.487C=0.513
1000GenomesEuropeSub1006T=0.498C=0.502
1000GenomesGlobalStudy-wide5008T=0.412C=0.588
1000GenomesSouth AsianSub978T=0.470C=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.501C=0.499
The Genome Aggregation DatabaseAfricanSub8712T=0.276C=0.724
The Genome Aggregation DatabaseAmericanSub836T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1612T=0.471C=0.529
The Genome Aggregation DatabaseEuropeSub18454T=0.509C=0.490
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.436C=0.563
The Genome Aggregation DatabaseOtherSub302T=0.500C=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.367C=0.632
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.482C=0.518
PMID Title Author Journal
26893365A genetic variation in microRNA target site of ETS2 is associated with clinical outcomes of paclitaxel-cisplatin chemotherapy in non-small cell lung cancer.Hong MJOncotarget
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
rs38140260.00016nicotine dependence (smoking)22377092

eQTL of rs3814026 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 rs3814026 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 )
chr2112662355112662405E06720689
chr2112662482112662607E06720816
chr2112662615112662865E06720949
chr2112663438112663561E06721772
chr2112663657112663831E06721991
chr2112663904112664316E06722238
chr2112664393112664451E06722727
chr2112664507112664640E06722841
chr2112666288112666435E06724622
chr2112684443112684531E06742777
chr2112684568112684665E06742902
chr2112685464112685532E06743798
chr2112659975112660088E06818309
chr2112660672112660798E06819006
chr2112661683112661854E06820017
chr2112662355112662405E06820689
chr2112662482112662607E06820816
chr2112662615112662865E06820949
chr2112663438112663561E06821772
chr2112664393112664451E06822727
chr2112664507112664640E06822841
chr2112665302112665356E06823636
chr2112665693112665840E06824027
chr2112666036112666096E06824370
chr2112666288112666435E06824622
chr2112666743112667060E06825077
chr2112667238112667300E06825572
chr2112668366112668416E06826700
chr2112668498112668758E06826832
chr2112674467112674521E06832801
chr2112675898112676416E06834232
chr2112676442112676526E06834776
chr2112677048112677190E06835382
chr2112677520112677630E06835854
chr2112677639112677693E06835973
chr2112677749112678135E06836083
chr2112680927112681182E06839261
chr2112682329112682529E06840663
chr2112684229112684360E06842563
chr2112684443112684531E06842777
chr2112684568112684665E06842902
chr2112685464112685532E06843798
chr2112687444112687694E06845778
chr2112688596112688754E06846930
chr2112688770112688924E06847104
chr2112659975112660088E06918309
chr2112660672112660798E06919006
chr2112661492112661618E06919826
chr2112661683112661854E06920017
chr2112662355112662405E06920689
chr2112662482112662607E06920816
chr2112662615112662865E06920949
chr2112663438112663561E06921772
chr2112664393112664451E06922727
chr2112664507112664640E06922841
chr2112665302112665356E06923636
chr2112665693112665840E06924027
chr2112666036112666096E06924370
chr2112666288112666435E06924622
chr2112667238112667300E06925572
chr2112667638112667798E06925972
chr2112668366112668416E06926700
chr2112668498112668758E06926832
chr2112677520112677630E06935854
chr2112677639112677693E06935973
chr2112684443112684531E06942777
chr2112684568112684665E06942902
chr2112688596112688754E06946930
chr2112688770112688924E06947104
chr2112640403112640487E070-1179
chr2112660672112660798E07119006
chr2112661683112661854E07120017
chr2112662355112662405E07120689
chr2112662482112662607E07120816
chr2112662615112662865E07120949
chr2112663438112663561E07121772
chr2112665693112665840E07124027
chr2112666036112666096E07124370
chr2112666743112667060E07125077
chr2112667238112667300E07125572
chr2112667638112667798E07125972
chr2112668366112668416E07126700
chr2112668498112668758E07126832
chr2112675898112676416E07134232
chr2112676442112676526E07134776
chr2112677048112677190E07135382
chr2112677520112677630E07135854
chr2112677639112677693E07135973
chr2112684443112684531E07142777
chr2112684568112684665E07142902
chr2112688596112688754E07146930
chr2112664393112664451E07222727
chr2112664507112664640E07222841
chr2112666036112666096E07224370
chr2112666288112666435E07224622
chr2112684443112684531E07242777
chr2112684568112684665E07242902
chr2112685464112685532E07243798
chr2112688596112688754E07246930
chr2112688770112688924E07247104
chr2112659975112660088E07318309
chr2112660672112660798E07319006
chr2112661492112661618E07319826
chr2112661683112661854E07320017
chr2112662355112662405E07320689
chr2112662482112662607E07320816
chr2112662615112662865E07320949
chr2112663438112663561E07321772
chr2112663657112663831E07321991
chr2112663904112664316E07322238
chr2112664393112664451E07322727
chr2112664507112664640E07322841
chr2112665693112665840E07324027
chr2112666036112666096E07324370
chr2112666288112666435E07324622
chr2112668366112668416E07326700
chr2112668498112668758E07326832
chr2112674467112674521E07332801
chr2112675898112676416E07334232
chr2112676442112676526E07334776
chr2112677048112677190E07335382
chr2112677520112677630E07335854
chr2112677639112677693E07335973
chr2112677749112678135E07336083
chr2112684229112684360E07342563
chr2112684443112684531E07342777
chr2112684568112684665E07342902
chr2112640403112640487E074-1179
chr2112645268112645715E0743602
chr2112661492112661618E07419826
chr2112661683112661854E07420017
chr2112662355112662405E07420689
chr2112662482112662607E07420816
chr2112662615112662865E07420949
chr2112663438112663561E07421772
chr2112663657112663831E07421991
chr2112664393112664451E07422727
chr2112665693112665840E07424027
chr2112666036112666096E07424370
chr2112666288112666435E07424622
chr2112668366112668416E07426700
chr2112668498112668758E07426832
chr2112677048112677190E07435382
chr2112677520112677630E07435854
chr2112677639112677693E07435973
chr2112677749112678135E07436083
chr2112684443112684531E07442777
chr2112684568112684665E07442902
chr2112687444112687694E07445778
chr2112688596112688754E07446930
chr2112640403112640487E081-1179
chr2112662355112662405E08120689
chr2112662482112662607E08120816
chr2112662615112662865E08120949
chr2112663438112663561E08221772
chr2112663657112663831E08221991
chr2112663904112664316E08222238
chr2112688596112688754E08246930










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2112641143112642486E0670
chr2112642535112642613E067869
chr2112655301112657220E06713635
chr2112657359112657519E06715693
chr2112657571112657645E06715905
chr2112657763112657813E06716097
chr2112641143112642486E0680
chr2112642535112642613E068869
chr2112655301112657220E06813635
chr2112657359112657519E06815693
chr2112657571112657645E06815905
chr2112657763112657813E06816097
chr2112657931112657985E06816265
chr2112641143112642486E0690
chr2112655301112657220E06913635
chr2112657359112657519E06915693
chr2112657571112657645E06915905
chr2112657763112657813E06916097
chr2112657931112657985E06916265
chr2112641143112642486E0700
chr2112642535112642613E070869
chr2112657359112657519E07015693
chr2112641143112642486E0710
chr2112642535112642613E071869
chr2112655301112657220E07113635
chr2112657359112657519E07115693
chr2112657571112657645E07115905
chr2112657763112657813E07116097
chr2112657931112657985E07116265
chr2112641143112642486E0720
chr2112655301112657220E07213635
chr2112657359112657519E07215693
chr2112657571112657645E07215905
chr2112657763112657813E07216097
chr2112657931112657985E07216265
chr2112641143112642486E0730
chr2112655301112657220E07313635
chr2112657359112657519E07315693
chr2112657571112657645E07315905
chr2112657763112657813E07316097
chr2112657931112657985E07316265
chr2112641143112642486E0740
chr2112655301112657220E07413635
chr2112657359112657519E07415693
chr2112657571112657645E07415905
chr2112657763112657813E07416097
chr2112657931112657985E07416265
chr2112641143112642486E0810
chr2112641143112642486E0820
chr2112642535112642613E082869
chr2112655301112657220E08213635
chr2112657359112657519E08215693