rs16911292

Homo sapiens
C>A / C>T
TTLL11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0011 (337/29972,GnomAD)
T=0013 (386/29118,TOPMED)
T=0030 (151/5008,1000G)
T=0007 (28/3854,ALSPAC)
T=0009 (33/3708,TWINSUK)
chr9:122019270 (GRCh38.p7) (9q33.2)
ND
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.122019270C>A
GRCh38.p7 chr 9NC_000009.12:g.122019270C>T
GRCh37.p13 chr 9NC_000009.11:g.124781549C>A
GRCh37.p13 chr 9NC_000009.11:g.124781549C>T

Gene: TTLL11, tubulin tyrosine ligase like 11(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TTLL11 transcript variant 1NM_001139442.1:c.N/AIntron Variant
TTLL11 transcript variant 2NM_194252.2:c.N/AIntron Variant
TTLL11 transcript variant X8XM_005251728.2:c.N/AIntron Variant
TTLL11 transcript variant X7XM_005251729.4:c.N/AIntron Variant
TTLL11 transcript variant X2XM_006716966.3:c.N/AIntron Variant
TTLL11 transcript variant X4XM_017014309.1:c.N/AIntron Variant
TTLL11 transcript variant X1XR_001746188.1:n.N/AIntron Variant
TTLL11 transcript variant X3XR_001746189.1:n.N/AIntron Variant
TTLL11 transcript variant X5XR_929720.2:n.N/AIntron Variant
TTLL11 transcript variant X6XR_929721.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.999T=0.001
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.985T=0.015
1000GenomesEuropeSub1006C=0.988T=0.012
1000GenomesGlobalStudy-wide5008C=0.970T=0.030
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.993T=0.007
The Genome Aggregation DatabaseAfricanSub8720C=0.997T=0.003
The Genome Aggregation DatabaseAmericanSub836C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1620C=0.976T=0.024
The Genome Aggregation DatabaseEuropeSub18494C=0.993T=0.006
The Genome Aggregation DatabaseGlobalStudy-wide29972C=0.988T=0.011
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.986T=0.013
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.991T=0.009
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
rs169112920.000653nicotine smoking19268276

eQTL of rs16911292 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 rs16911292 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 )
chr97850323778503316E067-1415
chr97854232178542641E06737590
chr97854309978543171E06738368
chr97854445478544584E06739723
chr97850856878508618E0683837
chr97850870878509031E0683977
chr97850923678509306E0684505
chr97850935578509441E0684624
chr97850950378509997E0684772
chr97851004178510414E0685310
chr97852477378524977E06820042
chr97852500278525064E06820271
chr97852508278525194E06820351
chr97852528578525335E06820554
chr97852539978525461E06820668
chr97852547078525581E06820739
chr97852563178526101E06820900
chr97854309978543171E06838368
chr97854321078543466E06838479
chr97854526378545394E06840532
chr97854556778545767E06840836
chr97854578478546460E06841053
chr97854653578546646E06841804
chr97850856878508618E0693837
chr97850870878509031E0693977
chr97845525378455396E070-49335
chr97845563078455761E070-48970
chr97848180278481926E071-22805
chr97848199778482047E071-22684
chr97850428878504387E071-344
chr97850856878508618E0713837
chr97850923678509306E0714505
chr97850935578509441E0714624
chr97850950378509997E0714772
chr97852500278525064E07120271
chr97852508278525194E07120351
chr97852528578525335E07120554
chr97852539978525461E07120668
chr97852547078525581E07120739
chr97852563178526101E07120900
chr97852625078526510E07121519
chr97852657078526660E07121839
chr97854309978543171E07138368
chr97850950378509997E0724772
chr97852563178526101E07220900
chr97852625078526510E07221519
chr97852547078525581E07320739
chr97850856878508618E0743837
chr97850870878509031E0743977
chr97850923678509306E0744505
chr97850935578509441E0744624
chr97850950378509997E0744772
chr97852625078526510E07421519
chr97854653578546646E07441804
chr97849414878494260E081-10471
chr97849431278494362E081-10369
chr97852625078526510E08121519
chr97852657078526660E08121839









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr97850459878508066E0670
chr97850459878508066E0680
chr97850459878508066E0690
chr97850459878508066E0710
chr97850459878508066E0720
chr97850459878508066E0730
chr97850459878508066E0740
chr97850459878508066E0810
chr97850459878508066E0820