rs12874278

Homo sapiens
C>T
DLEU1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0064 (1944/29986,GnomAD)
T=0063 (1846/29116,TOPMED)
T=0056 (282/5008,1000G)
T=0063 (242/3854,ALSPAC)
T=0061 (226/3708,TWINSUK)
chr13:50361786 (GRCh38.p7) (13q14.3)
ND
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.50361786C>T
GRCh37.p13 chr 13NC_000013.10:g.50935922C>T
RPL34P26 pseudogeneNG_010834.2:g.126G>A

Gene: DLEU1, deleted in lymphocytic leukemia 1 (non-protein coding)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DLEU1 transcript variant 3NR_109974.1:n.N/AIntron Variant
DLEU1 transcript variant 2NR_002605.2:n.N/AGenic Downstream Transcript Variant
DLEU1 transcript variant 1NR_109973.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.916T=0.084
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=0.986T=0.014
1000GenomesEuropeSub1006C=0.931T=0.069
1000GenomesGlobalStudy-wide5008C=0.944T=0.056
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.937T=0.063
The Genome Aggregation DatabaseAfricanSub8728C=0.923T=0.077
The Genome Aggregation DatabaseAmericanSub838C=0.960T=0.040
The Genome Aggregation DatabaseEast AsianSub1620C=0.986T=0.014
The Genome Aggregation DatabaseEuropeSub18498C=0.935T=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.935T=0.064
The Genome Aggregation DatabaseOtherSub302C=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.936T=0.063
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.939T=0.061
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
rs128742785.65E-05nicotine smoking19268276

eQTL of rs12874278 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 rs12874278 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 )
chr135091472950914974E067-20948
chr135093134950932985E067-2937
chr135093305550933119E067-2803
chr135093317450933326E067-2596
chr135095993050960043E06724008
chr135096009650960286E06724174
chr135096052750961631E06724605
chr135097427650976775E06738354
chr135091509950915413E068-20509
chr135093114150931333E068-4589
chr135093134950932985E068-2937
chr135093305550933119E068-2803
chr135093317450933326E068-2596
chr135093541750935486E068-436
chr135093557150935633E068-289
chr135095000050950195E06814078
chr135095021250950273E06814290
chr135095028850950365E06814366
chr135095962750959750E06823705
chr135095993050960043E06824008
chr135096009650960286E06824174
chr135091509950915413E069-20509
chr135093134950932985E069-2937
chr135093305550933119E069-2803
chr135093317450933326E069-2596
chr135095962750959750E06923705
chr135095993050960043E06924008
chr135096009650960286E06924174
chr135096052750961631E06924605
chr135097427650976775E06938354
chr135097695950977226E06941037
chr135091446050914575E070-21347
chr135091461750914719E070-21203
chr135091472950914974E070-20948
chr135091509950915413E070-20509
chr135093134950932985E070-2937
chr135093305550933119E070-2803
chr135093317450933326E070-2596
chr135093358550933635E070-2287
chr135093369350934167E070-1755
chr135093953550939721E0703613
chr135095214350953114E07016221
chr135096696150967064E07031039
chr135096754350967593E07031621
chr135096780050968100E07031878
chr135097427650976775E07038354
chr135093114150931333E071-4589
chr135093134950932985E071-2937
chr135093305550933119E071-2803
chr135093317450933326E071-2596
chr135095993050960043E07124008
chr135096009650960286E07124174
chr135096052750961631E07124605
chr135096780050968100E07131878
chr135097327750973327E07137355
chr135097346650973567E07137544
chr135097862550978675E07142703
chr135091472950914974E072-20948
chr135093114150931333E072-4589
chr135093134950932985E072-2937
chr135095993050960043E07224008
chr135096009650960286E07224174
chr135096052750961631E07224605
chr135097346650973567E07237544
chr135097427650976775E07238354
chr135093134950932985E073-2937
chr135096052750961631E07324605
chr135096171150961792E07325789
chr135097427650976775E07338354
chr135091509950915413E074-20509
chr135091543650915490E074-20432
chr135091559150915641E074-20281
chr135091583550915889E074-20033
chr135093114150931333E074-4589
chr135093134950932985E074-2937
chr135093305550933119E074-2803
chr135093317450933326E074-2596
chr135095993050960043E07424008
chr135096009650960286E07424174
chr135097427650976775E08138354
chr135093134950932985E082-2937
chr135093626450936350E082342
chr135097427650976775E08238354