rs501050

Homo sapiens
C>T
NTM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0412 (12332/29898,GnomAD)
C==0464 (13523/29118,TOPMED)
C==0375 (1879/5008,1000G)
C==0441 (1701/3854,ALSPAC)
C==0449 (1665/3708,TWINSUK)
chr11:131939677 (GRCh38.p7) (11q25)
ND
GWASdb2
1   publication(s)
See rs on genome
214 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.131939677C>T
GRCh37.p13 chr 11NC_000011.9:g.131809571C>T

Gene: NTM, neurotrimin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NTM transcript variant 2NM_001048209.1:c.N/AIntron Variant
NTM transcript variant 3NM_001144058.1:c.N/AIntron Variant
NTM transcript variant 4NM_001144059.1:c.N/AIntron Variant
NTM transcript variant 1NM_016522.2:c.N/AIntron Variant
NTM transcript variant X9XM_005271580.3:c.N/AIntron Variant
NTM transcript variant X6XM_005271581.3:c.N/AIntron Variant
NTM transcript variant X12XM_005271582.3:c.N/AIntron Variant
NTM transcript variant X13XM_006718855.3:c.N/AIntron Variant
NTM transcript variant X23XM_006718857.3:c.N/AIntron Variant
NTM transcript variant X16XM_011542861.2:c.N/AIntron Variant
NTM transcript variant X1XM_017017851.1:c.N/AIntron Variant
NTM transcript variant X3XM_017017852.1:c.N/AIntron Variant
NTM transcript variant X4XM_017017853.1:c.N/AIntron Variant
NTM transcript variant X4XM_017017854.1:c.N/AIntron Variant
NTM transcript variant X7XM_017017855.1:c.N/AIntron Variant
NTM transcript variant X8XM_017017856.1:c.N/AIntron Variant
NTM transcript variant X11XM_017017857.1:c.N/AIntron Variant
NTM transcript variant X14XM_017017858.1:c.N/AIntron Variant
NTM transcript variant X11XM_017017859.1:c.N/AIntron Variant
NTM transcript variant X16XM_017017860.1:c.N/AIntron Variant
NTM transcript variant X17XM_017017861.1:c.N/AIntron Variant
NTM transcript variant X18XM_017017862.1:c.N/AIntron Variant
NTM transcript variant X15XM_017017863.1:c.N/AIntron Variant
NTM transcript variant X21XM_017017864.1:c.N/AIntron Variant
NTM transcript variant X22XM_017017865.1:c.N/AIntron Variant
NTM transcript variant X24XM_017017866.1:c.N/AIntron Variant
NTM transcript variant X29XM_017017867.1:c.N/AGenic Upstream Transcript Variant
NTM transcript variant X1XR_001747893.1:n.N/AIntron Variant
NTM transcript variant X8XR_001747894.1:n.N/AIntron Variant
NTM transcript variant X25XR_001747895.1:n.N/AIntron Variant
NTM transcript variant X20XR_001747896.1:n.N/AIntron Variant
NTM transcript variant X27XR_001747897.1:n.N/AIntron Variant
NTM transcript variant X28XR_001747898.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.474T=0.526
1000GenomesAmericanSub694C=0.420T=0.580
1000GenomesEast AsianSub1008C=0.066T=0.934
1000GenomesEuropeSub1006C=0.466T=0.534
1000GenomesGlobalStudy-wide5008C=0.375T=0.625
1000GenomesSouth AsianSub978C=0.440T=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.441T=0.559
The Genome Aggregation DatabaseAfricanSub8696C=0.477T=0.523
The Genome Aggregation DatabaseAmericanSub834C=0.390T=0.610
The Genome Aggregation DatabaseEast AsianSub1618C=0.072T=0.928
The Genome Aggregation DatabaseEuropeSub18448C=0.410T=0.589
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.412T=0.587
The Genome Aggregation DatabaseOtherSub302C=0.570T=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.464T=0.535
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.449T=0.551
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
rs5010500.000116nicotine smoking19268276

eQTL of rs501050 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 rs501050 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 )
chr11131760109131760450E067-49121
chr11131763808131763858E067-45713
chr11131764069131764175E067-45396
chr11131764382131764517E067-45054
chr11131764699131764987E067-44584
chr11131776712131776868E067-32703
chr11131776927131777152E067-32419
chr11131792742131792818E067-16753
chr11131793879131794710E067-14861
chr11131802470131802773E067-6798
chr11131802842131803129E067-6442
chr11131808159131808597E067-974
chr11131858262131858344E06748691
chr11131760109131760450E068-49121
chr11131763481131763652E068-45919
chr11131763673131763739E068-45832
chr11131763808131763858E068-45713
chr11131764069131764175E068-45396
chr11131764382131764517E068-45054
chr11131764699131764987E068-44584
chr11131765063131765459E068-44112
chr11131777241131777591E068-31980
chr11131779353131780021E068-29550
chr11131784727131784777E068-24794
chr11131793879131794710E068-14861
chr11131802330131802416E068-7155
chr11131802470131802773E068-6798
chr11131802842131803129E068-6442
chr11131803273131803364E068-6207
chr11131808159131808597E068-974
chr11131808695131808771E068-800
chr11131812911131812974E0683340
chr11131812996131813098E0683425
chr11131813129131813274E0683558
chr11131813278131813534E0683707
chr11131813544131813668E0683973
chr11131846827131848930E06837256
chr11131854901131855069E06845330
chr11131855140131855225E06845569
chr11131855416131855469E06845845
chr11131855526131855745E06845955
chr11131763290131763372E069-46199
chr11131763481131763652E069-45919
chr11131763673131763739E069-45832
chr11131763808131763858E069-45713
chr11131764069131764175E069-45396
chr11131764382131764517E069-45054
chr11131764699131764987E069-44584
chr11131765063131765459E069-44112
chr11131787408131787468E069-22103
chr11131787512131787601E069-21970
chr11131787665131788140E069-21431
chr11131802330131802416E069-7155
chr11131802470131802773E069-6798
chr11131802842131803129E069-6442
chr11131803273131803364E069-6207
chr11131808159131808597E069-974
chr11131808695131808771E069-800
chr11131834585131834682E06925014
chr11131834757131834817E06925186
chr11131849542131849611E06939971
chr11131764382131764517E070-45054
chr11131764699131764987E070-44584
chr11131779353131780021E070-29550
chr11131801510131801626E070-7945
chr11131801922131802009E070-7562
chr11131802083131802143E070-7428
chr11131802330131802416E070-7155
chr11131802470131802773E070-6798
chr11131802842131803129E070-6442
chr11131810661131810715E0701090
chr11131842428131842672E07032857
chr11131843026131843273E07033455
chr11131843286131843374E07033715
chr11131846827131848930E07037256
chr11131763481131763652E071-45919
chr11131763673131763739E071-45832
chr11131763808131763858E071-45713
chr11131764069131764175E071-45396
chr11131764382131764517E071-45054
chr11131764699131764987E071-44584
chr11131776927131777152E071-32419
chr11131777241131777591E071-31980
chr11131779353131780021E071-29550
chr11131793879131794710E071-14861
chr11131798707131798821E071-10750
chr11131802330131802416E071-7155
chr11131802470131802773E071-6798
chr11131802842131803129E071-6442
chr11131808159131808597E071-974
chr11131813278131813534E0713707
chr11131813544131813668E0713973
chr11131813686131813780E0714115
chr11131814196131814396E0714625
chr11131834105131834155E07124534
chr11131834171131834226E07124600
chr11131834585131834682E07125014
chr11131834757131834817E07125186
chr11131846827131848930E07137256
chr11131848967131849017E07139396
chr11131849542131849611E07139971
chr11131850977131851195E07141406
chr11131851218131851513E07141647
chr11131851576131851633E07142005
chr11131851678131851728E07142107
chr11131851897131852002E07142326
chr11131852042131852521E07142471
chr11131760109131760450E072-49121
chr11131763481131763652E072-45919
chr11131763673131763739E072-45832
chr11131763808131763858E072-45713
chr11131764069131764175E072-45396
chr11131764382131764517E072-45054
chr11131769740131770301E072-39270
chr11131776712131776868E072-32703
chr11131788158131788249E072-21322
chr11131788356131788439E072-21132
chr11131793879131794710E072-14861
chr11131794754131795039E072-14532
chr11131795154131795231E072-14340
chr11131802470131802773E072-6798
chr11131802842131803129E072-6442
chr11131803273131803364E072-6207
chr11131803615131803700E072-5871
chr11131808159131808597E072-974
chr11131808695131808771E072-800
chr11131834105131834155E07224534
chr11131834171131834226E07224600
chr11131834585131834682E07225014
chr11131834757131834817E07225186
chr11131835168131835234E07225597
chr11131850582131850690E07241011
chr11131850707131850818E07241136
chr11131850842131850927E07241271
chr11131850977131851195E07241406
chr11131851218131851513E07241647
chr11131852042131852521E07242471
chr11131763481131763652E073-45919
chr11131763673131763739E073-45832
chr11131763808131763858E073-45713
chr11131764069131764175E073-45396
chr11131764382131764517E073-45054
chr11131776712131776868E073-32703
chr11131776927131777152E073-32419
chr11131777241131777591E073-31980
chr11131779353131780021E073-29550
chr11131792207131792406E073-17165
chr11131792527131792580E073-16991
chr11131792742131792818E073-16753
chr11131793879131794710E073-14861
chr11131802842131803129E073-6442
chr11131803273131803364E073-6207
chr11131808159131808597E073-974
chr11131834585131834682E07325014
chr11131834757131834817E07325186
chr11131763481131763652E074-45919
chr11131763673131763739E074-45832
chr11131763808131763858E074-45713
chr11131764069131764175E074-45396
chr11131764382131764517E074-45054
chr11131764699131764987E074-44584
chr11131793879131794710E074-14861
chr11131802330131802416E074-7155
chr11131802470131802773E074-6798
chr11131802842131803129E074-6442
chr11131803273131803364E074-6207
chr11131803615131803700E074-5871
chr11131803815131804477E074-5094
chr11131804830131804880E074-4691
chr11131806283131806412E074-3159
chr11131806552131806651E074-2920
chr11131806722131806772E074-2799
chr11131807461131807511E074-2060
chr11131808159131808597E074-974
chr11131808695131808771E074-800
chr11131809034131809084E074-487
chr11131809170131809224E074-347
chr11131812996131813098E0743425
chr11131813129131813274E0743558
chr11131813278131813534E0743707
chr11131813544131813668E0743973
chr11131813686131813780E0744115
chr11131826264131826486E07416693
chr11131848967131849017E07439396
chr11131849542131849611E07439971
chr11131851218131851513E07441647
chr11131851576131851633E07442005
chr11131851678131851728E07442107
chr11131851897131852002E07442326
chr11131852042131852521E07442471
chr11131855526131855745E07445955
chr11131855775131856316E07446204
chr11131764382131764517E081-45054
chr11131764699131764987E081-44584
chr11131779353131780021E081-29550
chr11131783114131783202E081-26369
chr11131783286131783429E081-26142
chr11131783816131783939E081-25632
chr11131783952131784038E081-25533
chr11131784247131784474E081-25097
chr11131787512131787601E081-21970
chr11131787665131788140E081-21431
chr11131788158131788249E081-21322
chr11131788356131788439E081-21132
chr11131814196131814396E0814625
chr11131776927131777152E082-32419
chr11131813129131813274E0823558
chr11131813278131813534E0823707
chr11131813544131813668E0823973
chr11131813686131813780E0824115
chr11131814196131814396E0824625
chr11131855416131855469E08245845
chr11131855526131855745E08245955
chr11131855775131856316E08246204










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11131780027131781390E067-28181
chr11131781514131781754E067-27817
chr11131781769131781992E067-27579
chr11131782031131782351E067-27220
chr11131780027131781390E068-28181
chr11131781514131781754E068-27817
chr11131781769131781992E068-27579
chr11131782031131782351E068-27220
chr11131780027131781390E069-28181
chr11131781514131781754E069-27817
chr11131781769131781992E069-27579
chr11131782031131782351E069-27220
chr11131780027131781390E070-28181
chr11131780027131781390E071-28181
chr11131781514131781754E071-27817
chr11131781769131781992E071-27579
chr11131782031131782351E071-27220
chr11131780027131781390E072-28181
chr11131781514131781754E072-27817
chr11131781769131781992E072-27579
chr11131782031131782351E072-27220
chr11131780027131781390E073-28181
chr11131781514131781754E073-27817
chr11131781769131781992E073-27579
chr11131782031131782351E073-27220
chr11131780027131781390E074-28181
chr11131780027131781390E082-28181
chr11131781514131781754E082-27817
chr11131781769131781992E082-27579