rs11653325

Homo sapiens
T>C
RPTOR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0082 (2478/29984,GnomAD)
T==0063 (1857/29118,TOPMED)
T==0136 (682/5008,1000G)
T==0079 (306/3854,ALSPAC)
T==0075 (277/3708,TWINSUK)
chr17:80936829 (GRCh38.p7) (17q25.3)
ND
GWASdb2
1   publication(s)
See rs on genome
151 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.80936829T>C
GRCh37.p13 chr 17NC_000017.10:g.78910629T>C
RPTOR RefSeqGeneNG_013034.1:g.397005T>C

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
1000GenomesAfricanSub1322T=0.030C=0.970
1000GenomesAmericanSub694T=0.080C=0.920
1000GenomesEast AsianSub1008T=0.259C=0.741
1000GenomesEuropeSub1006T=0.085C=0.915
1000GenomesGlobalStudy-wide5008T=0.136C=0.864
1000GenomesSouth AsianSub978T=0.240C=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.079C=0.921
The Genome Aggregation DatabaseAfricanSub8728T=0.039C=0.961
The Genome Aggregation DatabaseAmericanSub838T=0.090C=0.910
The Genome Aggregation DatabaseEast AsianSub1618T=0.261C=0.739
The Genome Aggregation DatabaseEuropeSub18498T=0.087C=0.912
The Genome Aggregation DatabaseGlobalStudy-wide29984T=0.082C=0.917
The Genome Aggregation DatabaseOtherSub302T=0.050C=0.950
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.063C=0.936
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.075C=0.925
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
rs116533250.000457nicotine smoking19268276

eQTL of rs11653325 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 rs11653325 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 )
chr177893410578934233E06723476
chr177894217778943736E06731548
chr177894379778945320E06733168
chr177893410578934233E06823476
chr177894201778942098E06831388
chr177894379778945320E06833168
chr177891553178917099E0694902
chr177893251778934084E06921888
chr177893410578934233E06923476
chr177894201778942098E06931388
chr177894217778943736E06931548
chr177894379778945320E06933168
chr177895417678955130E06943547
chr177891044478910494E070-135
chr177891054078910590E070-39
chr177891065078910707E07021
chr177891071178910799E07082
chr177891093478910988E070305
chr177891102478911495E070395
chr177891149978911579E070870
chr177891169178911805E0701062
chr177891188178912891E0701252
chr177891297978913248E0702350
chr177891329478913344E0702665
chr177891350678913556E0702877
chr177891364178913693E0703012
chr177891382878913878E0703199
chr177891399178914045E0703362
chr177891428678914359E0703657
chr177891440178914651E0703772
chr177891472478914871E0704095
chr177891487278915082E0704243
chr177891526578915305E0704636
chr177891715478917204E0706525
chr177891721278917364E0706583
chr177891747978917530E0706850
chr177893169778931783E07021068
chr177893251778934084E07021888
chr177893410578934233E07023476
chr177893424778934592E07023618
chr177893464178934748E07024012
chr177893475178934827E07024122
chr177893482878934878E07024199
chr177893490778934999E07024278
chr177893547078935653E07024841
chr177893569378935792E07025064
chr177893580778936055E07025178
chr177893615278936453E07025523
chr177894163878941678E07031009
chr177894171478941797E07031085
chr177894201778942098E07031388
chr177894217778943736E07031548
chr177894379778945320E07033168
chr177894533978945648E07034710
chr177891169178911805E0711062
chr177891487278915082E0714243
chr177891513078915180E0714501
chr177891526578915305E0714636
chr177891553178917099E0714902
chr177893410578934233E07123476
chr177894201778942098E07131388
chr177894217778943736E07131548
chr177894379778945320E07133168
chr177889253778892609E072-18020
chr177889272778892777E072-17852
chr177889283078892880E072-17749
chr177889302178893953E072-16676
chr177889397578894101E072-16528
chr177889506178895377E072-15252
chr177889574478895794E072-14835
chr177889584778895901E072-14728
chr177889609678896183E072-14446
chr177891553178917099E0724902
chr177893251778934084E07221888
chr177893410578934233E07223476
chr177894201778942098E07231388
chr177894379778945320E07233168
chr177889397578894101E073-16528
chr177889416278894296E073-16333
chr177889574478895794E073-14835
chr177890076478901005E073-9624
chr177890400178904317E073-6312
chr177890448178904525E073-6104
chr177890488578904945E073-5684
chr177890499778905071E073-5558
chr177890515278905228E073-5401
chr177891553178917099E0734902
chr177891715478917204E0736525
chr177891721278917364E0736583
chr177893251778934084E07321888
chr177893410578934233E07323476
chr177893424778934592E07323618
chr177894201778942098E07331388
chr177894217778943736E07331548
chr177894379778945320E07333168
chr177891188178912891E0741252
chr177891553178917099E0744902
chr177893410578934233E07423476
chr177893424778934592E07423618
chr177894217778943736E07431548
chr177894379778945320E07433168
chr177886725178867414E081-43215
chr177891093478910988E081305
chr177891149978911579E081870
chr177891169178911805E0811062
chr177891188178912891E0811252
chr177891297978913248E0812350
chr177891329478913344E0812665
chr177891440178914651E0813772
chr177891472478914871E0814095
chr177891487278915082E0814243
chr177891513078915180E0814501
chr177891526578915305E0814636
chr177891553178917099E0814902
chr177891715478917204E0816525
chr177891721278917364E0816583
chr177891747978917530E0816850
chr177893202578932087E08121396
chr177893251778934084E08121888
chr177893410578934233E08123476
chr177893424778934592E08123618
chr177893464178934748E08124012
chr177893475178934827E08124122
chr177893482878934878E08124199
chr177893490778934999E08124278
chr177893547078935653E08124841
chr177893569378935792E08125064
chr177893580778936055E08125178
chr177893615278936453E08125523
chr177894217778943736E08131548
chr177894379778945320E08133168
chr177895417678955130E08143547
chr177891044478910494E082-135
chr177891054078910590E082-39
chr177891065078910707E08221
chr177891071178910799E08282
chr177891093478910988E082305
chr177891102478911495E082395
chr177891149978911579E082870
chr177891169178911805E0821062
chr177891188178912891E0821252
chr177893251778934084E08221888
chr177893410578934233E08223476
chr177893424778934592E08223618
chr177893464178934748E08224012
chr177893475178934827E08224122
chr177893482878934878E08224199
chr177893490778934999E08224278
chr177894201778942098E08231388
chr177894217778943736E08231548
chr177894379778945320E08233168