rs6997956

Homo sapiens
T>A
KHDRBS3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0360 (10788/29906,GnomAD)
A=0315 (9186/29118,TOPMED)
A=0368 (1843/5008,1000G)
A=0456 (1758/3854,ALSPAC)
A=0454 (1685/3708,TWINSUK)
chr8:135472147 (GRCh38.p7) (8q24.23)
ND
GWASdb2
1   publication(s)
See rs on genome
171 Enhancers around
68 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.135472147T>A
GRCh37.p13 chr 8NC_000008.10:g.136484390T>A

Gene: KHDRBS3, KH domain containing, RNA binding, signal transduction associated 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KHDRBS3 transcriptNM_006558.2:c.N/AIntron Variant
KHDRBS3 transcript variant X6XM_005250757.2:c.N/AIntron Variant
KHDRBS3 transcript variant X10XM_005250758.3:c.N/AIntron Variant
KHDRBS3 transcript variant X2XM_011516796.2:c.N/AIntron Variant
KHDRBS3 transcript variant X4XM_011516797.2:c.N/AIntron Variant
KHDRBS3 transcript variant X8XM_011516798.1:c.N/AIntron Variant
KHDRBS3 transcript variant X15XM_011516799.1:c.N/AIntron Variant
KHDRBS3 transcript variant X3XR_001745455.1:n.N/AIntron Variant
KHDRBS3 transcript variant X5XR_001745456.1:n.N/AIntron Variant
KHDRBS3 transcript variant X7XR_001745457.1:n.N/AIntron Variant
KHDRBS3 transcript variant X11XR_001745458.1:n.N/AIntron Variant
KHDRBS3 transcript variant X1XR_242372.2:n.N/AIntron Variant
KHDRBS3 transcript variant X12XR_242374.2:n.N/AIntron Variant
KHDRBS3 transcript variant X9XR_928287.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.885A=0.115
1000GenomesAmericanSub694T=0.550A=0.450
1000GenomesEast AsianSub1008T=0.613A=0.387
1000GenomesEuropeSub1006T=0.558A=0.442
1000GenomesGlobalStudy-wide5008T=0.632A=0.368
1000GenomesSouth AsianSub978T=0.450A=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.544A=0.456
The Genome Aggregation DatabaseAfricanSub8708T=0.836A=0.164
The Genome Aggregation DatabaseAmericanSub836T=0.520A=0.480
The Genome Aggregation DatabaseEast AsianSub1610T=0.653A=0.347
The Genome Aggregation DatabaseEuropeSub18450T=0.551A=0.448
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.639A=0.360
The Genome Aggregation DatabaseOtherSub302T=0.580A=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.684A=0.315
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.546A=0.454
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
rs69979568.48E-06nicotine smoking19268276

eQTL of rs6997956 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 rs6997956 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 )
chr8136480523136480794E067-3596
chr8136493672136493722E0679282
chr8136493817136493867E0679427
chr8136493936136494498E0679546
chr8136494524136494705E06710134
chr8136494772136494902E06710382
chr8136494957136495071E06710567
chr8136509740136509819E06725350
chr8136511694136511747E06727304
chr8136511761136511829E06727371
chr8136514597136514660E06730207
chr8136514850136514982E06730460
chr8136514998136515077E06730608
chr8136515261136515396E06730871
chr8136515497136515622E06731107
chr8136519653136520001E06735263
chr8136527718136528755E06743328
chr8136528841136528956E06744451
chr8136529519136529569E06745129
chr8136483667136483861E068-529
chr8136483890136483953E068-437
chr8136483980136484223E068-167
chr8136484539136484589E068149
chr8136493817136493867E0689427
chr8136493936136494498E0689546
chr8136494524136494705E06810134
chr8136494772136494902E06810382
chr8136494957136495071E06810567
chr8136514998136515077E06830608
chr8136515261136515396E06830871
chr8136478133136479236E069-5154
chr8136479633136479825E069-4565
chr8136480523136480794E069-3596
chr8136480831136480903E069-3487
chr8136483667136483861E069-529
chr8136483890136483953E069-437
chr8136485054136485150E069664
chr8136486514136486564E0692124
chr8136493672136493722E0699282
chr8136493817136493867E0699427
chr8136493936136494498E0699546
chr8136494524136494705E06910134
chr8136494772136494902E06910382
chr8136494957136495071E06910567
chr8136495550136495669E06911160
chr8136499529136499579E06915139
chr8136509089136509578E06924699
chr8136509740136509819E06925350
chr8136510071136510330E06925681
chr8136510515136510604E06926125
chr8136439308136439392E070-44998
chr8136439430136439735E070-44655
chr8136493672136493722E0709282
chr8136493817136493867E0709427
chr8136493936136494498E0709546
chr8136494524136494705E07010134
chr8136494772136494902E07010382
chr8136494957136495071E07010567
chr8136474557136474607E071-9783
chr8136474650136474700E071-9690
chr8136475079136475267E071-9123
chr8136475281136475560E071-8830
chr8136475577136475724E071-8666
chr8136475931136476274E071-8116
chr8136483667136483861E071-529
chr8136483890136483953E071-437
chr8136483980136484223E071-167
chr8136484539136484589E071149
chr8136485054136485150E071664
chr8136485529136485589E0711139
chr8136493817136493867E0719427
chr8136493936136494498E0719546
chr8136494524136494705E07110134
chr8136494772136494902E07110382
chr8136494957136495071E07110567
chr8136498630136498712E07114240
chr8136509089136509578E07124699
chr8136509740136509819E07125350
chr8136510071136510330E07125681
chr8136510515136510604E07126125
chr8136510765136510816E07126375
chr8136511103136511153E07126713
chr8136511302136511378E07126912
chr8136511694136511747E07127304
chr8136511761136511829E07127371
chr8136512408136512804E07128018
chr8136512827136512975E07128437
chr8136512980136513050E07128590
chr8136526337136526489E07141947
chr8136482430136482484E072-1906
chr8136482600136482704E072-1686
chr8136485054136485150E072664
chr8136485529136485589E0721139
chr8136493936136494498E0729546
chr8136494524136494705E07210134
chr8136494957136495071E07210567
chr8136499776136499833E07215386
chr8136499958136500028E07215568
chr8136509089136509578E07224699
chr8136514597136514660E07230207
chr8136514850136514982E07230460
chr8136514998136515077E07230608
chr8136515261136515396E07230871
chr8136527718136528755E07243328
chr8136484539136484589E073149
chr8136485054136485150E073664
chr8136485529136485589E0731139
chr8136486056136486356E0731666
chr8136490098136490197E0735708
chr8136493672136493722E0739282
chr8136493817136493867E0739427
chr8136493936136494498E0739546
chr8136494524136494705E07310134
chr8136494772136494902E07310382
chr8136494957136495071E07310567
chr8136495550136495669E07311160
chr8136502286136502340E07317896
chr8136527718136528755E07343328
chr8136528841136528956E07344451
chr8136529734136529784E07345344
chr8136465049136465367E074-19023
chr8136465536136465596E074-18794
chr8136482430136482484E074-1906
chr8136482600136482704E074-1686
chr8136483667136483861E074-529
chr8136483890136483953E074-437
chr8136483980136484223E074-167
chr8136484539136484589E074149
chr8136485054136485150E074664
chr8136493817136493867E0749427
chr8136493936136494498E0749546
chr8136494524136494705E07410134
chr8136494772136494902E07410382
chr8136494957136495071E07410567
chr8136509089136509578E07424699
chr8136509740136509819E07425350
chr8136510071136510330E07425681
chr8136531479136531810E07447089
chr8136435792136435890E081-48500
chr8136435986136436045E081-48345
chr8136464652136465038E081-19352
chr8136465049136465367E081-19023
chr8136478133136479236E081-5154
chr8136480523136480794E081-3596
chr8136480831136480903E081-3487
chr8136483980136484223E081-167
chr8136484539136484589E081149
chr8136493817136493867E0819427
chr8136493936136494498E0819546
chr8136494524136494705E08110134
chr8136494772136494902E08110382
chr8136494957136495071E08110567
chr8136497156136497267E08112766
chr8136506794136507349E08122404
chr8136510071136510330E08125681
chr8136510515136510604E08126125
chr8136516236136516286E08131846
chr8136516655136516705E08132265
chr8136517181136517260E08132791
chr8136531479136531810E08147089
chr8136480523136480794E082-3596
chr8136493817136493867E0829427
chr8136493936136494498E0829546
chr8136494524136494705E08210134
chr8136494772136494902E08210382
chr8136494957136495071E08210567
chr8136495550136495669E08211160
chr8136495879136495929E08211489
chr8136496234136496284E08211844
chr8136496310136496360E08211920
chr8136496583136496788E08212193










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8136468251136471566E067-12824
chr8136471700136471880E067-12510
chr8136471948136472042E067-12348
chr8136472138136472541E067-11849
chr8136472625136472716E067-11674
chr8136472720136472770E067-11620
chr8136473695136473769E067-10621
chr8136473771136473821E067-10569
chr8136473994136474057E067-10333
chr8136474277136474350E067-10040
chr8136468251136471566E068-12824
chr8136471700136471880E068-12510
chr8136471948136472042E068-12348
chr8136472138136472541E068-11849
chr8136472625136472716E068-11674
chr8136472720136472770E068-11620
chr8136468251136471566E069-12824
chr8136471700136471880E069-12510
chr8136471948136472042E069-12348
chr8136472138136472541E069-11849
chr8136472625136472716E069-11674
chr8136472720136472770E069-11620
chr8136473695136473769E069-10621
chr8136473771136473821E069-10569
chr8136468251136471566E071-12824
chr8136471700136471880E071-12510
chr8136471948136472042E071-12348
chr8136472138136472541E071-11849
chr8136472625136472716E071-11674
chr8136472720136472770E071-11620
chr8136468251136471566E072-12824
chr8136471700136471880E072-12510
chr8136471948136472042E072-12348
chr8136472138136472541E072-11849
chr8136472625136472716E072-11674
chr8136472720136472770E072-11620
chr8136473695136473769E072-10621
chr8136473771136473821E072-10569
chr8136473994136474057E072-10333
chr8136474277136474350E072-10040
chr8136468251136471566E073-12824
chr8136471700136471880E073-12510
chr8136471948136472042E073-12348
chr8136472138136472541E073-11849
chr8136472625136472716E073-11674
chr8136472720136472770E073-11620
chr8136473695136473769E073-10621
chr8136473771136473821E073-10569
chr8136473994136474057E073-10333
chr8136474277136474350E073-10040
chr8136477435136477498E073-6892
chr8136468251136471566E074-12824
chr8136471700136471880E081-12510
chr8136471948136472042E081-12348
chr8136472138136472541E081-11849
chr8136472625136472716E081-11674
chr8136472720136472770E081-11620
chr8136468251136471566E082-12824
chr8136471700136471880E082-12510
chr8136471948136472042E082-12348
chr8136472138136472541E082-11849
chr8136472625136472716E082-11674
chr8136472720136472770E082-11620
chr8136473695136473769E082-10621
chr8136473771136473821E082-10569
chr8136473994136474057E082-10333
chr8136474277136474350E082-10040
chr8136477435136477498E082-6892