rs2290775

Homo sapiens
C>T
AKT1S1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0395 (11787/29838,GnomAD)
T=0431 (12577/29118,TOPMED)
T=0388 (1944/5008,1000G)
T=0405 (1559/3854,ALSPAC)
T=0417 (1545/3708,TWINSUK)
chr19:49871985 (GRCh38.p7) (19q13.33)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.49871985C>T
GRCh37.p13 chr 19NC_000019.9:g.50375242C>T
PNKP RefSeqGeneNG_027717.1:g.581G>A

Gene: AKT1S1, AKT1 substrate 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
AKT1S1 transcript variant 2NM_001098632.2:c.N/AIntron Variant
AKT1S1 transcript variant 3NM_001098633.3:c.N/AIntron Variant
AKT1S1 transcript variant 4NM_001278159.1:c.N/AIntron Variant
AKT1S1 transcript variant 5NM_001278160.1:c.N/AIntron Variant
AKT1S1 transcript variant 1NM_032375.5:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.561T=0.439
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.767T=0.233
1000GenomesEuropeSub1006C=0.586T=0.414
1000GenomesGlobalStudy-wide5008C=0.612T=0.388
1000GenomesSouth AsianSub978C=0.470T=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.595T=0.405
The Genome Aggregation DatabaseAfricanSub8662C=0.555T=0.445
The Genome Aggregation DatabaseAmericanSub838C=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1616C=0.765T=0.235
The Genome Aggregation DatabaseEuropeSub18420C=0.610T=0.389
The Genome Aggregation DatabaseGlobalStudy-wide29838C=0.605T=0.395
The Genome Aggregation DatabaseOtherSub302C=0.560T=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.568T=0.431
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.583T=0.417
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
rs22907755.83E-05nicotine dependence (smoking)22377092

eQTL of rs2290775 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:50375242PNKPENSG00000039650.5C>T1.1199e-54076Frontal_Cortex_BA9
Chr19:50375242PNKPENSG00000039650.5C>T3.0339e-94076Cortex
Chr19:50375242PNKPENSG00000039650.5C>T2.4345e-54076Caudate_basal_ganglia
Chr19:50375242PNKPENSG00000039650.5C>T4.1939e-54076Anterior_cingulate_cortex
Chr19:50375242PNKPENSG00000039650.5C>T3.5947e-34076Nucleus_accumbens_basal_ganglia

meQTL of rs2290775 in Fetal Brain

Probe ID Position Gene beta p-value
cg24893721chr19:50380873AKT1S1|TBC1D170.01232705353555681.8098e-32
cg10751382chr19:50391554TBC1D170.04332488293670722.6435e-10

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 )
chr195035701750357754E067-17488
chr195036117150362583E067-12659
chr195036916250369464E067-5778
chr195037150050371988E067-3254
chr195040977950410106E06734537
chr195041017950410232E06734937
chr195041024450410387E06735002
chr195041039450410444E06735152
chr195041053850410638E06735296
chr195041440250415056E06739160
chr195041515550415311E06739913
chr195035651750356633E068-18609
chr195035676750356838E068-18404
chr195035701750357754E068-17488
chr195036117150362583E068-12659
chr195037150050371988E068-3254
chr195040744350407768E06832201
chr195040977950410106E06834537
chr195041017950410232E06834937
chr195041024450410387E06835002
chr195041039450410444E06835152
chr195041053850410638E06835296
chr195041440250415056E06839160
chr195035651750356633E069-18609
chr195036117150362583E069-12659
chr195036824850368389E069-6853
chr195036842850369000E069-6242
chr195036916250369464E069-5778
chr195037150050371988E069-3254
chr195037707150378555E0691829
chr195040920850409429E06933966
chr195040977950410106E06934537
chr195041017950410232E06934937
chr195041024450410387E06935002
chr195041039450410444E06935152
chr195041053850410638E06935296
chr195041067150410739E06935429
chr195035701750357754E070-17488
chr195036267550366772E070-8470
chr195036842850369000E070-6242
chr195036916250369464E070-5778
chr195035651750356633E071-18609
chr195035676750356838E071-18404
chr195035684850356913E071-18329
chr195035701750357754E071-17488
chr195036117150362583E071-12659
chr195036824850368389E071-6853
chr195036842850369000E071-6242
chr195036916250369464E071-5778
chr195037150050371988E071-3254
chr195040920850409429E07133966
chr195040977950410106E07134537
chr195041017950410232E07134937
chr195042045550421000E07145213
chr195042253350422618E07147291
chr195042281150422917E07147569
chr195042298350423027E07147741
chr195035651750356633E072-18609
chr195035701750357754E072-17488
chr195036117150362583E072-12659
chr195036916250369464E072-5778
chr195040920850409429E07233966
chr195041024450410387E07235002
chr195041039450410444E07235152
chr195041053850410638E07235296
chr195041067150410739E07235429
chr195041430550414355E07239063
chr195041440250415056E07239160
chr195041515550415311E07239913
chr195041617850416326E07240936
chr195041638350416547E07241141
chr195041657650416877E07241334
chr195041702950417098E07241787
chr195041715150417219E07241909
chr195035651750356633E073-18609
chr195035676750356838E073-18404
chr195035684850356913E073-18329
chr195035701750357754E073-17488
chr195036036050361126E073-14116
chr195036117150362583E073-12659
chr195037150050371988E073-3254
chr195036117150362583E074-12659
chr195037150050371988E074-3254
chr195040920850409429E07433966
chr195040977950410106E07434537
chr195041017950410232E07434937
chr195041024450410387E07435002
chr195041039450410444E07435152
chr195041053850410638E07435296
chr195035651750356633E081-18609
chr195035676750356838E081-18404
chr195035684850356913E081-18329
chr195035701750357754E081-17488
chr195036842850369000E081-6242
chr195036916250369464E081-5778
chr195037150050371988E082-3254










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr195035269350356342E067-18900
chr195036956650371388E067-3854
chr195037205550374837E067-405
chr195037868650382835E0673444
chr195035269350356342E068-18900
chr195036956650371388E068-3854
chr195037205550374837E068-405
chr195037868650382835E0683444
chr195035269350356342E069-18900
chr195036956650371388E069-3854
chr195037205550374837E069-405
chr195037868650382835E0693444
chr195035269350356342E070-18900
chr195036956650371388E070-3854
chr195037205550374837E070-405
chr195037868650382835E0703444
chr195035269350356342E071-18900
chr195036956650371388E071-3854
chr195037205550374837E071-405
chr195037868650382835E0713444
chr195035269350356342E072-18900
chr195036956650371388E072-3854
chr195037205550374837E072-405
chr195037868650382835E0723444
chr195035269350356342E073-18900
chr195036956650371388E073-3854
chr195037205550374837E073-405
chr195037868650382835E0733444
chr195035269350356342E074-18900
chr195036956650371388E074-3854
chr195037205550374837E074-405
chr195037868650382835E0743444
chr195035269350356342E082-18900
chr195036956650371388E082-3854
chr195037205550374837E082-405
chr195037868650382835E0823444