rs6935679

Homo sapiens
A>G
RPS6KA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0406 (12174/29946,GnomAD)
G=0419 (12223/29118,TOPMED)
G=0394 (1974/5008,1000G)
G=0390 (1503/3854,ALSPAC)
G=0392 (1455/3708,TWINSUK)
chr6:166667229 (GRCh38.p7) (6q27)
ND
GWASdb2
1   publication(s)
See rs on genome
251 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.166667229A>G
GRCh37.p13 chr 6NC_000006.11:g.167080717A>G

Gene: RPS6KA2, ribosomal protein S6 kinase A2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RPS6KA2 transcript variant 2NM_001006932.2:c.N/AIntron Variant
RPS6KA2 transcript variant 3NM_001318936.1:c.N/AIntron Variant
RPS6KA2 transcript variant 4NM_001318937.1:c.N/AIntron Variant
RPS6KA2 transcript variant 5NM_001318938.1:c.N/AGenic Upstream Transcript Variant
RPS6KA2 transcript variant 1NM_021135.5:c.N/AGenic Upstream Transcript Variant
RPS6KA2 transcript variant X1XM_006715549.3:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.528G=0.472
1000GenomesAmericanSub694A=0.680G=0.320
1000GenomesEast AsianSub1008A=0.680G=0.320
1000GenomesEuropeSub1006A=0.622G=0.378
1000GenomesGlobalStudy-wide5008A=0.606G=0.394
1000GenomesSouth AsianSub978A=0.570G=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.610G=0.390
The Genome Aggregation DatabaseAfricanSub8712A=0.528G=0.472
The Genome Aggregation DatabaseAmericanSub834A=0.720G=0.280
The Genome Aggregation DatabaseEast AsianSub1618A=0.679G=0.321
The Genome Aggregation DatabaseEuropeSub18480A=0.610G=0.389
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.593G=0.406
The Genome Aggregation DatabaseOtherSub302A=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.580G=0.419
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.608G=0.392
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
rs69356790.000555nicotine smoking19268276

eQTL of rs6935679 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 rs6935679 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 )
chr6167032181167032241E067-48476
chr6167032444167034443E067-46274
chr6167034490167034891E067-45826
chr6167035020167035127E067-45590
chr6167036612167036802E067-43915
chr6167036877167037117E067-43600
chr6167042964167043014E067-37703
chr6167086587167086737E0675870
chr6167086806167086860E0676089
chr6167086965167087086E0676248
chr6167087778167087988E0677061
chr6167088533167088612E0677816
chr6167126359167126794E06745642
chr6167126870167127342E06746153
chr6167127383167127440E06746666
chr6167127555167127642E06746838
chr6167127738167127846E06747021
chr6167128090167128140E06747373
chr6167130651167130712E06749934
chr6167034490167034891E068-45826
chr6167035020167035127E068-45590
chr6167035201167035354E068-45363
chr6167037818167038268E068-42449
chr6167050094167050736E068-29981
chr6167064011167064221E068-16496
chr6167064301167064408E068-16309
chr6167064477167064559E068-16158
chr6167085915167085965E0685198
chr6167085972167086022E0685255
chr6167086046167086106E0685329
chr6167086179167086415E0685462
chr6167100397167100489E06819680
chr6167100509167100701E06819792
chr6167100783167100858E06820066
chr6167101114167101370E06820397
chr6167101382167101684E06820665
chr6167101907167101992E06821190
chr6167116509167116726E06835792
chr6167116727167116873E06836010
chr6167116894167117051E06836177
chr6167117157167117207E06836440
chr6167117289167117347E06836572
chr6167126359167126794E06845642
chr6167126870167127342E06846153
chr6167127383167127440E06846666
chr6167127555167127642E06846838
chr6167127738167127846E06847021
chr6167128090167128140E06847373
chr6167128218167128312E06847501
chr6167128493167128565E06847776
chr6167128627167129222E06847910
chr6167129982167130032E06849265
chr6167130050167130090E06849333
chr6167130369167130455E06849652
chr6167130478167130578E06849761
chr6167130651167130712E06849934
chr6167032444167034443E069-46274
chr6167034490167034891E069-45826
chr6167035201167035354E069-45363
chr6167037818167038268E069-42449
chr6167038550167038757E069-41960
chr6167063690167063930E069-16787
chr6167064011167064221E069-16496
chr6167084814167085804E0694097
chr6167086179167086415E0695462
chr6167086466167086533E0695749
chr6167086587167086737E0695870
chr6167088533167088612E0697816
chr6167126870167127342E06946153
chr6167127383167127440E06946666
chr6167127555167127642E06946838
chr6167127738167127846E06947021
chr6167128090167128140E06947373
chr6167128218167128312E06947501
chr6167128493167128565E06947776
chr6167128627167129222E06947910
chr6167032181167032241E070-48476
chr6167032444167034443E070-46274
chr6167034490167034891E070-45826
chr6167035020167035127E070-45590
chr6167035201167035354E070-45363
chr6167035411167035466E070-45251
chr6167035597167035657E070-45060
chr6167042964167043014E070-37703
chr6167063690167063930E070-16787
chr6167064011167064221E070-16496
chr6167065446167065500E070-15217
chr6167065842167065893E070-14824
chr6167066148167066198E070-14519
chr6167066256167066388E070-14329
chr6167066448167066498E070-14219
chr6167066535167066585E070-14132
chr6167068299167068386E070-12331
chr6167068725167068775E070-11942
chr6167068815167069031E070-11686
chr6167072195167072270E070-8447
chr6167072320167072583E070-8134
chr6167072898167072938E070-7779
chr6167074641167074691E070-6026
chr6167100156167100206E07019439
chr6167100397167100489E07019680
chr6167100509167100701E07019792
chr6167100783167100858E07020066
chr6167101114167101370E07020397
chr6167101382167101684E07020665
chr6167101907167101992E07021190
chr6167102109167102283E07021392
chr6167104522167105660E07023805
chr6167105845167105917E07025128
chr6167128493167128565E07047776
chr6167128627167129222E07047910
chr6167034490167034891E071-45826
chr6167050094167050736E071-29981
chr6167050787167050991E071-29726
chr6167086046167086106E0715329
chr6167087346167087524E0716629
chr6167087560167087688E0716843
chr6167087778167087988E0717061
chr6167104522167105660E07123805
chr6167126359167126794E07145642
chr6167126870167127342E07146153
chr6167127383167127440E07146666
chr6167127555167127642E07146838
chr6167127738167127846E07147021
chr6167128090167128140E07147373
chr6167128218167128312E07147501
chr6167128493167128565E07147776
chr6167034490167034891E072-45826
chr6167068815167069031E072-11686
chr6167084814167085804E0724097
chr6167085915167085965E0725198
chr6167085972167086022E0725255
chr6167086046167086106E0725329
chr6167086179167086415E0725462
chr6167086466167086533E0725749
chr6167086587167086737E0725870
chr6167086806167086860E0726089
chr6167086965167087086E0726248
chr6167101114167101370E07220397
chr6167101382167101684E07220665
chr6167120006167120067E07239289
chr6167125808167125999E07245091
chr6167126359167126794E07245642
chr6167126870167127342E07246153
chr6167127383167127440E07246666
chr6167127555167127642E07246838
chr6167127738167127846E07247021
chr6167128090167128140E07247373
chr6167128218167128312E07247501
chr6167128493167128565E07247776
chr6167128627167129222E07247910
chr6167130478167130578E07249761
chr6167130651167130712E07249934
chr6167032444167034443E073-46274
chr6167034490167034891E073-45826
chr6167036565167036605E073-44112
chr6167036612167036802E073-43915
chr6167036877167037117E073-43600
chr6167037205167037351E073-43366
chr6167037406167037463E073-43254
chr6167037818167038268E073-42449
chr6167053825167054424E073-26293
chr6167068815167069031E073-11686
chr6167084814167085804E0734097
chr6167085915167085965E0735198
chr6167085972167086022E0735255
chr6167086046167086106E0735329
chr6167086179167086415E0735462
chr6167086466167086533E0735749
chr6167086587167086737E0735870
chr6167086806167086860E0736089
chr6167086965167087086E0736248
chr6167087346167087524E0736629
chr6167087560167087688E0736843
chr6167087778167087988E0737061
chr6167100156167100206E07319439
chr6167100397167100489E07319680
chr6167100509167100701E07319792
chr6167100783167100858E07320066
chr6167101114167101370E07320397
chr6167101382167101684E07320665
chr6167126359167126794E07345642
chr6167127383167127440E07346666
chr6167127555167127642E07346838
chr6167127738167127846E07347021
chr6167128090167128140E07347373
chr6167128218167128312E07347501
chr6167128493167128565E07347776
chr6167128627167129222E07347910
chr6167130369167130455E07349652
chr6167130478167130578E07349761
chr6167130651167130712E07349934
chr6167037818167038268E074-42449
chr6167038550167038757E074-41960
chr6167126359167126794E07445642
chr6167126870167127342E07446153
chr6167127383167127440E07446666
chr6167127555167127642E07446838
chr6167127738167127846E07447021
chr6167128090167128140E07447373
chr6167128218167128312E07447501
chr6167128493167128565E07447776
chr6167034490167034891E081-45826
chr6167063690167063930E081-16787
chr6167064011167064221E081-16496
chr6167064301167064408E081-16309
chr6167064477167064559E081-16158
chr6167064659167064866E081-15851
chr6167064949167065240E081-15477
chr6167065446167065500E081-15217
chr6167065842167065893E081-14824
chr6167066148167066198E081-14519
chr6167073765167073922E081-6795
chr6167073924167074318E081-6399
chr6167074378167074428E081-6289
chr6167074500167074540E081-6177
chr6167074641167074691E081-6026
chr6167100783167100858E08120066
chr6167101114167101370E08120397
chr6167101382167101684E08120665
chr6167101907167101992E08121190
chr6167116509167116726E08135792
chr6167116727167116873E08136010
chr6167116894167117051E08136177
chr6167117157167117207E08136440
chr6167117289167117347E08136572
chr6167126359167126794E08145642
chr6167126870167127342E08146153
chr6167127383167127440E08146666
chr6167127555167127642E08146838
chr6167127738167127846E08147021
chr6167128090167128140E08147373
chr6167032444167034443E082-46274
chr6167034490167034891E082-45826
chr6167042964167043014E082-37703
chr6167047984167048075E082-32642
chr6167048113167048204E082-32513
chr6167077303167077370E082-3347
chr6167081341167081414E082624
chr6167081418167081472E082701
chr6167081589167081658E082872
chr6167100783167100858E08220066
chr6167101114167101370E08220397
chr6167116894167117051E08236177
chr6167117714167118010E08236997
chr6167118030167118129E08237313
chr6167118458167118547E08237741
chr6167118653167118850E08237936
chr6167126359167126794E08245642
chr6167126870167127342E08246153
chr6167128627167129222E08247910










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6167038808167042741E067-37976
chr6167038808167042741E068-37976
chr6167038808167042741E069-37976
chr6167038808167042741E070-37976
chr6167038808167042741E071-37976
chr6167038808167042741E072-37976
chr6167038808167042741E073-37976
chr6167038808167042741E074-37976
chr6167038808167042741E081-37976
chr6167038808167042741E082-37976