rs6086371

Homo sapiens
C>T
PLCB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0340 (10163/29878,GnomAD)
C==0349 (10177/29118,TOPMED)
C==0322 (1614/5008,1000G)
C==0294 (1135/3854,ALSPAC)
C==0297 (1103/3708,TWINSUK)
chr20:8229070 (GRCh38.p7) (20p12.3)
ND
GWASdb2
1   publication(s)
See rs on genome
66 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.8229070C>T
GRCh37.p13 chr 20NC_000020.10:g.8209717C>T
PLCB1 RefSeqGeneNG_028168.1:g.101422C>T

Gene: PLCB1, phospholipase C beta 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PLCB1 transcript variant 1NM_015192.3:c.N/AIntron Variant
PLCB1 transcript variant 2NM_182734.2:c.N/AIntron Variant
PLCB1 transcript variant X1XM_011529199.2:c.N/AIntron Variant
PLCB1 transcript variant X3XM_017027752.1:c.N/AIntron Variant
PLCB1 transcript variant X4XM_017027753.1:c.N/AIntron Variant
PLCB1 transcript variant X2XM_011529200.2:c.N/AGenic Upstream Transcript Variant
PLCB1 transcript variant X5XM_011529201.2:c.N/AGenic Upstream Transcript Variant
PLCB1 transcript variant X7XM_011529203.2:c.N/AGenic Upstream Transcript Variant
PLCB1 transcript variant X6XR_001754216.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.372T=0.628
1000GenomesAmericanSub694C=0.430T=0.570
1000GenomesEast AsianSub1008C=0.226T=0.774
1000GenomesEuropeSub1006C=0.349T=0.651
1000GenomesGlobalStudy-wide5008C=0.322T=0.678
1000GenomesSouth AsianSub978C=0.250T=0.750
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.294T=0.706
The Genome Aggregation DatabaseAfricanSub8686C=0.389T=0.611
The Genome Aggregation DatabaseAmericanSub836C=0.450T=0.550
The Genome Aggregation DatabaseEast AsianSub1598C=0.208T=0.792
The Genome Aggregation DatabaseEuropeSub18456C=0.322T=0.677
The Genome Aggregation DatabaseGlobalStudy-wide29878C=0.340T=0.659
The Genome Aggregation DatabaseOtherSub302C=0.390T=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.349T=0.650
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.297T=0.703
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
rs60863710.000109nicotine smoking19268276

eQTL of rs6086371 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 rs6086371 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 )
chr2081952518195313E067-14404
chr2082253038225383E06715586
chr2082253868225565E06715669
chr2082258528225903E06716135
chr2082261098226159E06716392
chr2082456738245723E06735956
chr2082459188245968E06736201
chr2081882958188404E068-21313
chr2081957388195965E068-13752
chr2081960018196459E068-13258
chr2081967118197036E068-12681
chr2082036138203915E068-5802
chr2082039348204121E068-5596
chr2082041368204413E068-5304
chr2082044248204508E068-5209
chr2082046388204737E068-4980
chr2082080908208186E068-1531
chr2082082768208333E068-1384
chr2082086318208684E068-1033
chr2082087238208788E068-929
chr2082223158222435E06812598
chr2082225098222585E06812792
chr2082227108222768E06812993
chr2082236258223753E06813908
chr2082510518251096E06841334
chr2082558468256583E06846129
chr2082228368223024E06913119
chr2082230958223179E06913378
chr2082558468256583E06946129
chr2081957388195965E070-13752
chr2081955328195588E071-14129
chr2081956698195712E071-14005
chr2081957388195965E071-13752
chr2082131308213210E0713413
chr2082250688225251E07115351
chr2082253038225383E07115586
chr2082253868225565E07115669
chr2082255718225686E07115854
chr2081960018196459E072-13258
chr2082558468256583E07246129
chr2081952518195313E073-14404
chr2081955328195588E073-14129
chr2081956698195712E073-14005
chr2081957388195965E073-13752
chr2082134828213532E0733765
chr2082228368223024E07313119
chr2082230958223179E07313378
chr2082235408223586E07313823
chr2082249038224953E07315186
chr2082250688225251E07315351
chr2082253038225383E07315586
chr2082253868225565E07315669
chr2082255718225686E07315854
chr2082258528225903E07316135
chr2082558468256583E07346129
chr2081955328195588E074-14129
chr2081956698195712E074-14005
chr2081957388195965E074-13752
chr2082250688225251E07415351
chr2082253038225383E07415586
chr2082253868225565E07415669
chr2082255718225686E07415854
chr2082258528225903E07416135
chr2082261098226159E07416392
chr2082261978226324E07416480
chr2081939908195032E082-14685