rs12445719

Homo sapiens
T>C
PRKCB : Intron Variant
MIR1273H : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0098 (2942/29930,GnomAD)
C=0083 (2428/29118,TOPMED)
C=0108 (541/5008,1000G)
C=0124 (478/3854,ALSPAC)
C=0128 (475/3708,TWINSUK)
chr16:24202266 (GRCh38.p7) (16p12.1)
ND
GWASdb2
1   publication(s)
See rs on genome
77 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.24202266T>C
GRCh37.p13 chr 16NC_000016.9:g.24213587T>C
PRKCB RefSeqGeneNG_029003.1:g.371288T>C

Gene: PRKCB, protein kinase C beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCB transcript variant 2NM_002738.6:c.N/AIntron Variant
PRKCB transcript variant 1NM_212535.2:c.N/AIntron Variant

Gene: MIR1273H, microRNA 1273h(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
MIR1273H transcriptNR_106996.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.991C=0.009
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.912C=0.088
1000GenomesEuropeSub1006T=0.891C=0.109
1000GenomesGlobalStudy-wide5008T=0.892C=0.108
1000GenomesSouth AsianSub978T=0.810C=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.876C=0.124
The Genome Aggregation DatabaseAfricanSub8712T=0.972C=0.028
The Genome Aggregation DatabaseAmericanSub838T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1620T=0.919C=0.081
The Genome Aggregation DatabaseEuropeSub18458T=0.873C=0.126
The Genome Aggregation DatabaseGlobalStudy-wide29930T=0.901C=0.098
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.916C=0.083
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.872C=0.128
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
rs124457190.000314nicotine smoking19268276

eQTL of rs12445719 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 rs12445719 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 )
chr162420662224207075E067-6512
chr162420725124207291E067-6296
chr162421943324219499E0675846
chr162421984724220698E0676260
chr162423983824239892E06726251
chr162424125024241301E06727663
chr162424140924241637E06727822
chr162418496724185007E068-28580
chr162420662224207075E068-6512
chr162420725124207291E068-6296
chr162421943324219499E0685846
chr162421984724220698E0686260
chr162416667324166734E069-46853
chr162416697124167054E069-46533
chr162420662224207075E069-6512
chr162420725124207291E069-6296
chr162421943324219499E0695846
chr162421984724220698E0696260
chr162422107624221172E0697489
chr162421943324219499E0705846
chr162421984724220698E0706260
chr162420662224207075E071-6512
chr162420725124207291E071-6296
chr162421943324219499E0715846
chr162422107624221172E0717489
chr162416648624166526E072-47061
chr162416667324166734E072-46853
chr162416697124167054E072-46533
chr162416727224167332E072-46255
chr162420662224207075E072-6512
chr162420725124207291E072-6296
chr162421943324219499E0725846
chr162421984724220698E0726260
chr162422107624221172E0727489
chr162418496724185007E073-28580
chr162418631524186529E073-27058
chr162418688324186943E073-26644
chr162418699124187073E073-26514
chr162420725124207291E073-6296
chr162421943324219499E0735846
chr162421984724220698E0736260
chr162423952024239691E07325933
chr162423983824239892E07326251
chr162416667324166734E074-46853
chr162416697124167054E074-46533
chr162416727224167332E074-46255
chr162420662224207075E074-6512
chr162420725124207291E074-6296
chr162421943324219499E0745846
chr162421984724220698E0746260
chr162422107624221172E0747489
chr162417540224175561E081-38026
chr162417795424178004E081-35583
chr162417809724178517E081-35070
chr162417876924178819E081-34768
chr162417896024179010E081-34577
chr162417923224179282E081-34305
chr162417947424179528E081-34059
chr162417953324179581E081-34006
chr162417966524179849E081-33738
chr162417990924179963E081-33624
chr162418008124180584E081-33003
chr162418094724181043E081-32544
chr162421984724220698E0816260
chr162423983824239892E08126251
chr162423999324240343E08126406
chr162424048124240595E08126894
chr162424088724240937E08127300
chr162417795424178004E082-35583
chr162417809724178517E082-35070
chr162417876924178819E082-34768
chr162417896024179010E082-34577
chr162417923224179282E082-34305
chr162417947424179528E082-34059
chr162417953324179581E082-34006
chr162417966524179849E082-33738
chr162421984724220698E0826260