rs1916998

Homo sapiens
G>T
FGF1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0441 (13197/29926,GnomAD)
G==0499 (14551/29118,TOPMED)
T=0460 (2304/5008,1000G)
T=0269 (1038/3854,ALSPAC)
T=0250 (926/3708,TWINSUK)
chr5:142694567 (GRCh38.p7) (5q31.3)
ND
GWASdb2
1   publication(s)
See rs on genome
356 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.142694567G>T
GRCh37.p13 chr 5NC_000005.9:g.142074132G>T

Gene: FGF1, fibroblast growth factor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FGF1 transcript variant 5NM_001144934.1:c.N/AIntron Variant
FGF1 transcript variant 6NM_001144935.1:c.N/AIntron Variant
FGF1 transcript variant 7NM_001257205.1:c.N/AIntron Variant
FGF1 transcript variant 8NM_001257206.1:c.N/AIntron Variant
FGF1 transcript variant 1NM_000800.4:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 4NM_001144892.2:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 9NM_001257207.1:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 10NM_001257208.1:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 11NM_001257209.1:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 12NM_001257210.1:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 13NM_001257211.1:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 14NM_001257212.1:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 2NM_033136.3:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant 3NM_033137.2:c.N/AGenic Upstream Transcript Variant
FGF1 transcript variant X2XM_011537607.2:c.N/AIntron Variant
FGF1 transcript variant X1XM_005268390.4:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.088T=0.912
1000GenomesAmericanSub694G=0.770T=0.230
1000GenomesEast AsianSub1008G=0.554T=0.446
1000GenomesEuropeSub1006G=0.713T=0.287
1000GenomesGlobalStudy-wide5008G=0.540T=0.460
1000GenomesSouth AsianSub978G=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.731T=0.269
The Genome Aggregation DatabaseAfricanSub8704G=0.188T=0.812
The Genome Aggregation DatabaseAmericanSub836G=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1618G=0.505T=0.495
The Genome Aggregation DatabaseEuropeSub18466G=0.724T=0.275
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.559T=0.441
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.499T=0.500
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.750T=0.250
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
rs19169980.000601nicotine smoking19268276

eQTL of rs1916998 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 rs1916998 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 )
chr5142024261142025184E067-48948
chr5142025253142025375E067-48757
chr5142034812142034933E067-39199
chr5142034972142035715E067-38417
chr5142035953142036243E067-37889
chr5142039043142039528E067-34604
chr5142039563142039653E067-34479
chr5142040054142040202E067-33930
chr5142047369142047712E067-26420
chr5142048012142048151E067-25981
chr5142048327142048387E067-25745
chr5142049138142049333E067-24799
chr5142049498142049811E067-24321
chr5142050062142050237E067-23895
chr5142050331142050896E067-23236
chr5142050941142051113E067-23019
chr5142051189142051686E067-22446
chr5142053566142053763E067-20369
chr5142053787142053967E067-20165
chr5142054056142054355E067-19777
chr5142054387142055341E067-18791
chr5142057828142057973E067-16159
chr5142058302142058481E067-15651
chr5142058818142058888E067-15244
chr5142058943142058997E067-15135
chr5142062400142062559E067-11573
chr5142062723142062944E067-11188
chr5142066513142066833E067-7299
chr5142067365142067415E067-6717
chr5142067639142067689E067-6443
chr5142067935142068426E067-5706
chr5142068788142069043E067-5089
chr5142069065142069135E067-4997
chr5142075551142075696E0671419
chr5142075708142075822E0671576
chr5142075867142075917E0671735
chr5142075975142076518E0671843
chr5142076848142079121E0672716
chr5142096451142096987E06722319
chr5142097073142097451E06722941
chr5142097490142097652E06723358
chr5142101832142102052E06727700
chr5142116045142116100E06741913
chr5142024261142025184E068-48948
chr5142025253142025375E068-48757
chr5142034812142034933E068-39199
chr5142034972142035715E068-38417
chr5142035953142036243E068-37889
chr5142039043142039528E068-34604
chr5142039563142039653E068-34479
chr5142040054142040202E068-33930
chr5142048677142048721E068-25411
chr5142048753142048830E068-25302
chr5142049138142049333E068-24799
chr5142049498142049811E068-24321
chr5142050062142050237E068-23895
chr5142050331142050896E068-23236
chr5142050941142051113E068-23019
chr5142051189142051686E068-22446
chr5142053566142053763E068-20369
chr5142053787142053967E068-20165
chr5142054056142054355E068-19777
chr5142054387142055341E068-18791
chr5142055427142055535E068-18597
chr5142055923142056302E068-17830
chr5142056908142057115E068-17017
chr5142057132142057182E068-16950
chr5142057828142057973E068-16159
chr5142058302142058481E068-15651
chr5142058818142058888E068-15244
chr5142058943142058997E068-15135
chr5142062400142062559E068-11573
chr5142062723142062944E068-11188
chr5142066513142066833E068-7299
chr5142067365142067415E068-6717
chr5142067935142068426E068-5706
chr5142068788142069043E068-5089
chr5142069065142069135E068-4997
chr5142076848142079121E0682716
chr5142092129142092221E06817997
chr5142096451142096987E06822319
chr5142097073142097451E06822941
chr5142097490142097652E06823358
chr5142101832142102052E06827700
chr5142102559142102786E06828427
chr5142123112142123950E06848980
chr5142024261142025184E069-48948
chr5142025253142025375E069-48757
chr5142034972142035715E069-38417
chr5142035953142036243E069-37889
chr5142037616142037676E069-36456
chr5142039043142039528E069-34604
chr5142039563142039653E069-34479
chr5142044236142044520E069-29612
chr5142045586142045678E069-28454
chr5142048327142048387E069-25745
chr5142048400142048458E069-25674
chr5142048677142048721E069-25411
chr5142048753142048830E069-25302
chr5142049138142049333E069-24799
chr5142049498142049811E069-24321
chr5142050062142050237E069-23895
chr5142050331142050896E069-23236
chr5142050941142051113E069-23019
chr5142051189142051686E069-22446
chr5142053566142053763E069-20369
chr5142053787142053967E069-20165
chr5142054056142054355E069-19777
chr5142054387142055341E069-18791
chr5142055427142055535E069-18597
chr5142055923142056302E069-17830
chr5142056908142057115E069-17017
chr5142057132142057182E069-16950
chr5142057828142057973E069-16159
chr5142058302142058481E069-15651
chr5142058818142058888E069-15244
chr5142058943142058997E069-15135
chr5142062008142062162E069-11970
chr5142062400142062559E069-11573
chr5142062723142062944E069-11188
chr5142066513142066833E069-7299
chr5142067935142068426E069-5706
chr5142068788142069043E069-5089
chr5142069065142069135E069-4997
chr5142075708142075822E0691576
chr5142075867142075917E0691735
chr5142075975142076518E0691843
chr5142076582142076632E0692450
chr5142096204142096300E06922072
chr5142096451142096987E06922319
chr5142097073142097451E06922941
chr5142097490142097652E06923358
chr5142100123142101066E06925991
chr5142101078142101284E06926946
chr5142101832142102052E06927700
chr5142102559142102786E06928427
chr5142123112142123950E06948980
chr5142034972142035715E070-38417
chr5142050062142050237E070-23895
chr5142050941142051113E070-23019
chr5142051189142051686E070-22446
chr5142064017142066378E070-7754
chr5142076848142079121E0702716
chr5142024261142025184E071-48948
chr5142025253142025375E071-48757
chr5142025512142025552E071-48580
chr5142034812142034933E071-39199
chr5142034972142035715E071-38417
chr5142035953142036243E071-37889
chr5142037901142038011E071-36121
chr5142039043142039528E071-34604
chr5142039563142039653E071-34479
chr5142040054142040202E071-33930
chr5142043706142043826E071-30306
chr5142048012142048151E071-25981
chr5142048327142048387E071-25745
chr5142048400142048458E071-25674
chr5142048677142048721E071-25411
chr5142048753142048830E071-25302
chr5142049138142049333E071-24799
chr5142050062142050237E071-23895
chr5142050331142050896E071-23236
chr5142050941142051113E071-23019
chr5142051189142051686E071-22446
chr5142053566142053763E071-20369
chr5142053787142053967E071-20165
chr5142054056142054355E071-19777
chr5142054387142055341E071-18791
chr5142055427142055535E071-18597
chr5142055923142056302E071-17830
chr5142057828142057973E071-16159
chr5142058302142058481E071-15651
chr5142058818142058888E071-15244
chr5142058943142058997E071-15135
chr5142060353142060798E071-13334
chr5142062008142062162E071-11970
chr5142062400142062559E071-11573
chr5142062723142062944E071-11188
chr5142066513142066833E071-7299
chr5142067365142067415E071-6717
chr5142067639142067689E071-6443
chr5142067935142068426E071-5706
chr5142068788142069043E071-5089
chr5142069065142069135E071-4997
chr5142075551142075696E0711419
chr5142075708142075822E0711576
chr5142075867142075917E0711735
chr5142075975142076518E0711843
chr5142092129142092221E07117997
chr5142096451142096987E07122319
chr5142097073142097451E07122941
chr5142097490142097652E07123358
chr5142100123142101066E07125991
chr5142101832142102052E07127700
chr5142102559142102786E07128427
chr5142024261142025184E072-48948
chr5142025253142025375E072-48757
chr5142032565142032638E072-41494
chr5142034203142034306E072-39826
chr5142034812142034933E072-39199
chr5142034972142035715E072-38417
chr5142035953142036243E072-37889
chr5142039043142039528E072-34604
chr5142039563142039653E072-34479
chr5142040054142040202E072-33930
chr5142047369142047712E072-26420
chr5142048012142048151E072-25981
chr5142048327142048387E072-25745
chr5142048400142048458E072-25674
chr5142048677142048721E072-25411
chr5142048753142048830E072-25302
chr5142049138142049333E072-24799
chr5142049498142049811E072-24321
chr5142050062142050237E072-23895
chr5142050331142050896E072-23236
chr5142050941142051113E072-23019
chr5142051189142051686E072-22446
chr5142053566142053763E072-20369
chr5142053787142053967E072-20165
chr5142054056142054355E072-19777
chr5142054387142055341E072-18791
chr5142055427142055535E072-18597
chr5142055923142056302E072-17830
chr5142056908142057115E072-17017
chr5142057132142057182E072-16950
chr5142057828142057973E072-16159
chr5142058302142058481E072-15651
chr5142058818142058888E072-15244
chr5142058943142058997E072-15135
chr5142062008142062162E072-11970
chr5142062400142062559E072-11573
chr5142062723142062944E072-11188
chr5142066513142066833E072-7299
chr5142067935142068426E072-5706
chr5142068788142069043E072-5089
chr5142069065142069135E072-4997
chr5142075326142075506E0721194
chr5142075551142075696E0721419
chr5142075708142075822E0721576
chr5142075867142075917E0721735
chr5142075975142076518E0721843
chr5142076582142076632E0722450
chr5142092129142092221E07217997
chr5142096204142096300E07222072
chr5142096451142096987E07222319
chr5142097073142097451E07222941
chr5142097490142097652E07223358
chr5142101832142102052E07227700
chr5142102559142102786E07228427
chr5142123112142123950E07248980
chr5142024261142025184E073-48948
chr5142034812142034933E073-39199
chr5142034972142035715E073-38417
chr5142037616142037676E073-36456
chr5142037901142038011E073-36121
chr5142039563142039653E073-34479
chr5142040054142040202E073-33930
chr5142048753142048830E073-25302
chr5142049138142049333E073-24799
chr5142049498142049811E073-24321
chr5142050062142050237E073-23895
chr5142050331142050896E073-23236
chr5142053566142053763E073-20369
chr5142053787142053967E073-20165
chr5142054056142054355E073-19777
chr5142054387142055341E073-18791
chr5142055427142055535E073-18597
chr5142055923142056302E073-17830
chr5142058302142058481E073-15651
chr5142062723142062944E073-11188
chr5142063479142063856E073-10276
chr5142066513142066833E073-7299
chr5142068788142069043E073-5089
chr5142069065142069135E073-4997
chr5142075551142075696E0731419
chr5142075708142075822E0731576
chr5142075867142075917E0731735
chr5142075975142076518E0731843
chr5142076582142076632E0732450
chr5142076848142079121E0732716
chr5142096204142096300E07322072
chr5142096451142096987E07322319
chr5142097073142097451E07322941
chr5142097490142097652E07323358
chr5142101832142102052E07327700
chr5142102559142102786E07328427
chr5142114862142114912E07340730
chr5142114966142115191E07340834
chr5142123112142123950E07348980
chr5142124079142124129E07349947
chr5142024261142025184E074-48948
chr5142025253142025375E074-48757
chr5142034203142034306E074-39826
chr5142034812142034933E074-39199
chr5142034972142035715E074-38417
chr5142035953142036243E074-37889
chr5142037616142037676E074-36456
chr5142037901142038011E074-36121
chr5142039043142039528E074-34604
chr5142039563142039653E074-34479
chr5142040054142040202E074-33930
chr5142043706142043826E074-30306
chr5142044236142044520E074-29612
chr5142045586142045678E074-28454
chr5142045827142046181E074-27951
chr5142047369142047712E074-26420
chr5142048012142048151E074-25981
chr5142048327142048387E074-25745
chr5142048400142048458E074-25674
chr5142048677142048721E074-25411
chr5142048753142048830E074-25302
chr5142049138142049333E074-24799
chr5142050062142050237E074-23895
chr5142050331142050896E074-23236
chr5142050941142051113E074-23019
chr5142051189142051686E074-22446
chr5142053566142053763E074-20369
chr5142053787142053967E074-20165
chr5142054056142054355E074-19777
chr5142054387142055341E074-18791
chr5142055427142055535E074-18597
chr5142055923142056302E074-17830
chr5142056908142057115E074-17017
chr5142057132142057182E074-16950
chr5142057828142057973E074-16159
chr5142058302142058481E074-15651
chr5142058818142058888E074-15244
chr5142058943142058997E074-15135
chr5142062008142062162E074-11970
chr5142062400142062559E074-11573
chr5142062723142062944E074-11188
chr5142066513142066833E074-7299
chr5142067365142067415E074-6717
chr5142067639142067689E074-6443
chr5142067935142068426E074-5706
chr5142068788142069043E074-5089
chr5142069065142069135E074-4997
chr5142074520142074574E074388
chr5142075326142075506E0741194
chr5142075551142075696E0741419
chr5142075708142075822E0741576
chr5142075867142075917E0741735
chr5142075975142076518E0741843
chr5142076582142076632E0742450
chr5142096204142096300E07422072
chr5142096451142096987E07422319
chr5142097073142097451E07422941
chr5142097490142097652E07423358
chr5142100123142101066E07425991
chr5142064017142066378E081-7754
chr5142066513142066833E081-7299
chr5142091980142092030E08117848
chr5142092129142092221E08117997
chr5142067935142068426E082-5706
chr5142091980142092030E08217848
chr5142092129142092221E08217997










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5142092258142093367E06718126
chr5142092258142093367E06818126
chr5142092258142093367E06918126
chr5142092258142093367E07118126
chr5142092258142093367E07218126
chr5142092258142093367E07318126
chr5142092258142093367E07418126
chr5142092258142093367E08218126