rs868432

Homo sapiens
G>A
RPTOR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0449 (13456/29932,GnomAD)
A=0466 (13585/29118,TOPMED)
A=0492 (2462/5008,1000G)
A=0432 (1664/3854,ALSPAC)
A=0430 (1593/3708,TWINSUK)
chr17:80903935 (GRCh38.p7) (17q25.3)
ND
GWASdb2
1   publication(s)
See rs on genome
229 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.80903935G>A
GRCh37.p13 chr 17NC_000017.10:g.78877735G>A
RPTOR RefSeqGeneNG_013034.1:g.364111G>A

Gene: RPTOR, regulatory associated protein of MTOR complex 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RPTOR transcript variant 2NM_001163034.1:c.N/AIntron Variant
RPTOR transcript variant 1NM_020761.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.380A=0.620
1000GenomesAmericanSub694G=0.460A=0.540
1000GenomesEast AsianSub1008G=0.483A=0.517
1000GenomesEuropeSub1006G=0.619A=0.381
1000GenomesGlobalStudy-wide5008G=0.508A=0.492
1000GenomesSouth AsianSub978G=0.630A=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.568A=0.432
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.533A=0.466
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.570A=0.430
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
rs8684320.000393nicotine smoking19268276

eQTL of rs868432 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 rs868432 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 )
chr177883241478833866E067-43869
chr177883392778834112E067-43623
chr177883413078834183E067-43552
chr177883429078834345E067-43390
chr177884674278846874E067-30861
chr177884698478847079E067-30656
chr177884708578847811E067-29924
chr177884789978847952E067-29783
chr177883241478833866E068-43869
chr177883392778834112E068-43623
chr177883413078834183E068-43552
chr177883524978836251E068-41484
chr177884556578846220E068-31515
chr177884628178846741E068-30994
chr177884674278846874E068-30861
chr177884698478847079E068-30656
chr177884708578847811E068-29924
chr177884789978847952E068-29783
chr177883241478833866E069-43869
chr177883392778834112E069-43623
chr177883413078834183E069-43552
chr177883524978836251E069-41484
chr177884628178846741E069-30994
chr177884674278846874E069-30861
chr177884698478847079E069-30656
chr177884708578847811E069-29924
chr177884789978847952E069-29783
chr177891553178917099E06937796
chr177883141378831704E070-46031
chr177883172678831847E070-45888
chr177883189578831963E070-45772
chr177883202878832075E070-45660
chr177883207878832132E070-45603
chr177883215378832283E070-45452
chr177883429078834345E070-43390
chr177883448578834549E070-43186
chr177883455178834647E070-43088
chr177883469178834804E070-42931
chr177883493578835243E070-42492
chr177883524978836251E070-41484
chr177884556578846220E070-31515
chr177884628178846741E070-30994
chr177884674278846874E070-30861
chr177884698478847079E070-30656
chr177884708578847811E070-29924
chr177891044478910494E07032709
chr177891054078910590E07032805
chr177891065078910707E07032915
chr177891071178910799E07032976
chr177891093478910988E07033199
chr177891102478911495E07033289
chr177891149978911579E07033764
chr177891169178911805E07033956
chr177891188178912891E07034146
chr177891297978913248E07035244
chr177891329478913344E07035559
chr177891350678913556E07035771
chr177891364178913693E07035906
chr177891382878913878E07036093
chr177891399178914045E07036256
chr177891428678914359E07036551
chr177891440178914651E07036666
chr177891472478914871E07036989
chr177891487278915082E07037137
chr177891526578915305E07037530
chr177891715478917204E07039419
chr177891721278917364E07039477
chr177891747978917530E07039744
chr177883241478833866E071-43869
chr177883392778834112E071-43623
chr177883413078834183E071-43552
chr177883429078834345E071-43390
chr177883448578834549E071-43186
chr177883455178834647E071-43088
chr177883469178834804E071-42931
chr177883493578835243E071-42492
chr177883524978836251E071-41484
chr177884556578846220E071-31515
chr177884628178846741E071-30994
chr177884674278846874E071-30861
chr177884698478847079E071-30656
chr177884708578847811E071-29924
chr177884789978847952E071-29783
chr177891169178911805E07133956
chr177891487278915082E07137137
chr177891513078915180E07137395
chr177891526578915305E07137530
chr177891553178917099E07137796
chr177883215378832283E072-45452
chr177883392778834112E072-43623
chr177883413078834183E072-43552
chr177883429078834345E072-43390
chr177883448578834549E072-43186
chr177883455178834647E072-43088
chr177884003878840468E072-37267
chr177884556578846220E072-31515
chr177884628178846741E072-30994
chr177884674278846874E072-30861
chr177884698478847079E072-30656
chr177884708578847811E072-29924
chr177884789978847952E072-29783
chr177889253778892609E07214802
chr177889272778892777E07214992
chr177889283078892880E07215095
chr177889302178893953E07215286
chr177889397578894101E07216240
chr177889506178895377E07217326
chr177889574478895794E07218009
chr177889584778895901E07218112
chr177889609678896183E07218361
chr177891553178917099E07237796
chr177883241478833866E073-43869
chr177883392778834112E073-43623
chr177883413078834183E073-43552
chr177883429078834345E073-43390
chr177883448578834549E073-43186
chr177883455178834647E073-43088
chr177883469178834804E073-42931
chr177884628178846741E073-30994
chr177884674278846874E073-30861
chr177884698478847079E073-30656
chr177884708578847811E073-29924
chr177885681278856886E073-20849
chr177885708778857134E073-20601
chr177885723478857294E073-20441
chr177889397578894101E07316240
chr177889416278894296E07316427
chr177889574478895794E07318009
chr177890076478901005E07323029
chr177890400178904317E07326266
chr177890448178904525E07326746
chr177890488578904945E07327150
chr177890499778905071E07327262
chr177890515278905228E07327417
chr177891553178917099E07337796
chr177891715478917204E07339419
chr177891721278917364E07339477
chr177883241478833866E074-43869
chr177883392778834112E074-43623
chr177883413078834183E074-43552
chr177883429078834345E074-43390
chr177884628178846741E074-30994
chr177884674278846874E074-30861
chr177884698478847079E074-30656
chr177884708578847811E074-29924
chr177884789978847952E074-29783
chr177884836378848498E074-29237
chr177891188178912891E07434146
chr177891553178917099E07437796
chr177883005678831227E081-46508
chr177883125778831407E081-46328
chr177883141378831704E081-46031
chr177883172678831847E081-45888
chr177883189578831963E081-45772
chr177883202878832075E081-45660
chr177883207878832132E081-45603
chr177883215378832283E081-45452
chr177883241478833866E081-43869
chr177883392778834112E081-43623
chr177883413078834183E081-43552
chr177883429078834345E081-43390
chr177883448578834549E081-43186
chr177883455178834647E081-43088
chr177883469178834804E081-42931
chr177883493578835243E081-42492
chr177883524978836251E081-41484
chr177884400978844123E081-33612
chr177884420478844507E081-33228
chr177884460978844663E081-33072
chr177884478878844880E081-32855
chr177884513478845199E081-32536
chr177884522578845526E081-32209
chr177884556578846220E081-31515
chr177884628178846741E081-30994
chr177884674278846874E081-30861
chr177884698478847079E081-30656
chr177884708578847811E081-29924
chr177884789978847952E081-29783
chr177884836378848498E081-29237
chr177884861878848727E081-29008
chr177884875778848902E081-28833
chr177884897678849089E081-28646
chr177884918578849225E081-28510
chr177886725178867414E081-10321
chr177891093478910988E08133199
chr177891149978911579E08133764
chr177891169178911805E08133956
chr177891188178912891E08134146
chr177891297978913248E08135244
chr177891329478913344E08135559
chr177891440178914651E08136666
chr177891472478914871E08136989
chr177891487278915082E08137137
chr177891513078915180E08137395
chr177891526578915305E08137530
chr177891553178917099E08137796
chr177891715478917204E08139419
chr177891721278917364E08139477
chr177891747978917530E08139744
chr177883005678831227E082-46508
chr177883125778831407E082-46328
chr177883141378831704E082-46031
chr177883172678831847E082-45888
chr177883189578831963E082-45772
chr177883202878832075E082-45660
chr177883207878832132E082-45603
chr177883215378832283E082-45452
chr177883241478833866E082-43869
chr177883392778834112E082-43623
chr177884522578845526E082-32209
chr177884556578846220E082-31515
chr177884628178846741E082-30994
chr177884674278846874E082-30861
chr177884698478847079E082-30656
chr177884708578847811E082-29924
chr177884789978847952E082-29783
chr177884836378848498E082-29237
chr177884861878848727E082-29008
chr177884875778848902E082-28833
chr177884897678849089E082-28646
chr177891044478910494E08232709
chr177891054078910590E08232805
chr177891065078910707E08232915
chr177891071178910799E08232976
chr177891093478910988E08233199
chr177891102478911495E08233289
chr177891149978911579E08233764
chr177891169178911805E08233956
chr177891188178912891E08234146