rs9649948

Homo sapiens
T>C
DEPTOR : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0217 (6509/29966,GnomAD)
T==0213 (6208/29118,TOPMED)
T==0160 (799/5008,1000G)
T==0220 (849/3854,ALSPAC)
T==0224 (831/3708,TWINSUK)
chr8:119901295 (GRCh38.p7) (8q24.12)
CD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.119901295T>C
GRCh37.p13 chr 8NC_000008.10:g.120913535T>C

Gene: DEPTOR, DEP domain containing MTOR-interacting protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DEPTOR transcript variant 2NM_001283012.1:c.N/AIntron Variant
DEPTOR transcript variant 1NM_022783.3:c.N/AIntron Variant
DEPTOR transcript variant X1XM_017013735.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.215C=0.785
1000GenomesAmericanSub694T=0.150C=0.850
1000GenomesEast AsianSub1008T=0.044C=0.956
1000GenomesEuropeSub1006T=0.220C=0.780
1000GenomesGlobalStudy-wide5008T=0.160C=0.840
1000GenomesSouth AsianSub978T=0.150C=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.220C=0.780
The Genome Aggregation DatabaseAfricanSub8716T=0.202C=0.798
The Genome Aggregation DatabaseAmericanSub838T=0.200C=0.800
The Genome Aggregation DatabaseEast AsianSub1620T=0.044C=0.956
The Genome Aggregation DatabaseEuropeSub18490T=0.240C=0.759
The Genome Aggregation DatabaseGlobalStudy-wide29966T=0.217C=0.782
The Genome Aggregation DatabaseOtherSub302T=0.240C=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.213C=0.786
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.224C=0.776
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs96499480.000128cocaine dependencea(AA)23958962
rs96499480.000338cocaine dependence(ALL)23958962

eQTL of rs9649948 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:120913535DSCC1ENSG00000136982.5T>C8.7733e-2345285Cerebellum
Chr8:120913535DSCC1ENSG00000136982.5T>C6.3924e-1645285Frontal_Cortex_BA9
Chr8:120913535DSCC1ENSG00000136982.5T>C8.4235e-2145285Caudate_basal_ganglia

meQTL of rs9649948 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 )
chr8120879143120879793E067-33742
chr8120888530120888629E067-24906
chr8120889200120889425E067-24110
chr8120889693120889834E067-23701
chr8120889842120889965E067-23570
chr8120898446120898673E067-14862
chr8120898753120898871E067-14664
chr8120899948120899992E067-13543
chr8120901186120901230E067-12305
chr8120901289120901346E067-12189
chr8120901538120901610E067-11925
chr8120901864120901931E067-11604
chr8120903190120903251E067-10284
chr8120903295120903382E067-10153
chr8120903581120903652E067-9883
chr8120903895120904164E067-9371
chr8120904314120904365E067-9170
chr8120904648120905031E067-8504
chr8120905331120905469E067-8066
chr8120905476120905830E067-7705
chr8120908517120908705E067-4830
chr8120917419120917472E0673884
chr8120917580120917634E0674045
chr8120918093120918146E0674558
chr8120918230120918280E0674695
chr8120918861120919568E0675326
chr8120920159120920203E0676624
chr8120920239120920279E0676704
chr8120920592120920646E0677057
chr8120920740120920812E0677205
chr8120920832120920929E0677297
chr8120920964120921702E0677429
chr8120923246120923373E0679711
chr8120923839120924007E06710304
chr8120924168120924212E06710633
chr8120924431120924502E06710896
chr8120924567120924771E06711032
chr8120924825120925077E06711290
chr8120925510120925560E06711975
chr8120925704120926048E06712169
chr8120926080120926148E06712545
chr8120930547120930646E06717012
chr8120931145120931277E06717610
chr8120931314120931408E06717779
chr8120931529120931583E06717994
chr8120931595120931645E06718060
chr8120931699120933066E06718164
chr8120933069120933217E06719534
chr8120934512120934775E06720977
chr8120934830120934915E06721295
chr8120934971120935108E06721436
chr8120935147120935200E06721612
chr8120938482120938536E06724947
chr8120941587120941847E06728052
chr8120942067120942350E06728532
chr8120946577120946854E06733042
chr8120947009120947270E06733474
chr8120954486120954569E06740951
chr8120956671120956721E06743136
chr8120956770120956820E06743235
chr8120957274120957314E06743739
chr8120958043120958166E06744508
chr8120958194120958483E06744659
chr8120958739120958793E06745204
chr8120959416120959466E06745881
chr8120959622120960248E06746087
chr8120885238120885278E068-28257
chr8120885296120885346E068-28189
chr8120888530120888629E068-24906
chr8120889200120889425E068-24110
chr8120889693120889834E068-23701
chr8120889842120889965E068-23570
chr8120898446120898673E068-14862
chr8120898753120898871E068-14664
chr8120898924120899008E068-14527
chr8120899081120899268E068-14267
chr8120899341120899417E068-14118
chr8120899420120899732E068-13803
chr8120899948120899992E068-13543
chr8120901186120901230E068-12305
chr8120901289120901346E068-12189
chr8120901538120901610E068-11925
chr8120901864120901931E068-11604
chr8120903190120903251E068-10284
chr8120903295120903382E068-10153
chr8120903581120903652E068-9883
chr8120903895120904164E068-9371
chr8120904314120904365E068-9170
chr8120904648120905031E068-8504
chr8120907454120908289E068-5246
chr8120915256120915309E0681721
chr8120915883120915987E0682348
chr8120917419120917472E0683884
chr8120917580120917634E0684045
chr8120918093120918146E0684558
chr8120918230120918280E0684695
chr8120918861120919568E0685326
chr8120920159120920203E0686624
chr8120920239120920279E0686704
chr8120920592120920646E0687057
chr8120920740120920812E0687205
chr8120920832120920929E0687297
chr8120920964120921702E0687429
chr8120922194120922291E0688659
chr8120923246120923373E0689711
chr8120924431120924502E06810896
chr8120924567120924771E06811032
chr8120924825120925077E06811290
chr8120925510120925560E06811975
chr8120931145120931277E06817610
chr8120931314120931408E06817779
chr8120931529120931583E06817994
chr8120931595120931645E06818060
chr8120931699120933066E06818164
chr8120933069120933217E06819534
chr8120934830120934915E06821295
chr8120934971120935108E06821436
chr8120935147120935200E06821612
chr8120935231120935281E06821696
chr8120939130120939217E06825595
chr8120948362120948718E06834827
chr8120959622120960248E06846087
chr8120885238120885278E069-28257
chr8120885296120885346E069-28189
chr8120889693120889834E069-23701
chr8120889842120889965E069-23570
chr8120898446120898673E069-14862
chr8120898753120898871E069-14664
chr8120898924120899008E069-14527
chr8120899081120899268E069-14267
chr8120899341120899417E069-14118
chr8120899420120899732E069-13803
chr8120899948120899992E069-13543
chr8120901186120901230E069-12305
chr8120901289120901346E069-12189
chr8120901538120901610E069-11925
chr8120903581120903652E069-9883
chr8120903895120904164E069-9371
chr8120904314120904365E069-9170
chr8120904648120905031E069-8504
chr8120905331120905469E069-8066
chr8120905476120905830E069-7705
chr8120906047120906097E069-7438
chr8120915883120915987E0692348
chr8120917419120917472E0693884
chr8120917580120917634E0694045
chr8120918093120918146E0694558
chr8120918230120918280E0694695
chr8120918861120919568E0695326
chr8120920159120920203E0696624
chr8120920239120920279E0696704
chr8120920592120920646E0697057
chr8120920740120920812E0697205
chr8120920832120920929E0697297
chr8120920964120921702E0697429
chr8120922194120922291E0698659
chr8120923839120924007E06910304
chr8120924168120924212E06910633
chr8120924431120924502E06910896
chr8120924567120924771E06911032
chr8120924825120925077E06911290
chr8120925510120925560E06911975
chr8120925704120926048E06912169
chr8120926080120926148E06912545
chr8120928771120929561E06915236
chr8120931145120931277E06917610
chr8120931314120931408E06917779
chr8120931529120931583E06917994
chr8120931595120931645E06918060
chr8120931699120933066E06918164
chr8120933069120933217E06919534
chr8120934512120934775E06920977
chr8120934830120934915E06921295
chr8120934971120935108E06921436
chr8120935147120935200E06921612
chr8120935231120935281E06921696
chr8120935533120935624E06921998
chr8120935689120935739E06922154
chr8120935763120935807E06922228
chr8120936220120936270E06922685
chr8120940459120940509E06926924
chr8120940771120940848E06927236
chr8120942067120942350E06928532
chr8120946577120946854E06933042
chr8120947009120947270E06933474
chr8120948238120948332E06934703
chr8120948362120948718E06934827
chr8120957274120957314E06943739
chr8120958043120958166E06944508
chr8120959416120959466E06945881
chr8120959622120960248E06946087
chr8120885238120885278E070-28257
chr8120885296120885346E070-28189
chr8120904648120905031E070-8504
chr8120905331120905469E070-8066
chr8120958043120958166E07044508
chr8120958194120958483E07044659
chr8120888530120888629E071-24906
chr8120889200120889425E071-24110
chr8120889693120889834E071-23701
chr8120889842120889965E071-23570
chr8120890937120890987E071-22548
chr8120893474120893514E071-20021
chr8120898065120898109E071-15426
chr8120898446120898673E071-14862
chr8120898753120898871E071-14664
chr8120898924120899008E071-14527
chr8120899081120899268E071-14267
chr8120899341120899417E071-14118
chr8120899420120899732E071-13803
chr8120899948120899992E071-13543
chr8120901186120901230E071-12305
chr8120903190120903251E071-10284
chr8120903295120903382E071-10153
chr8120903581120903652E071-9883
chr8120903895120904164E071-9371
chr8120904314120904365E071-9170
chr8120904648120905031E071-8504
chr8120905331120905469E071-8066
chr8120905476120905830E071-7705
chr8120906047120906097E071-7438
chr8120907237120907398E071-6137
chr8120907454120908289E071-5246
chr8120908517120908705E071-4830
chr8120908782120908869E071-4666
chr8120911572120911971E071-1564
chr8120913114120913164E071-371
chr8120913393120913472E071-63
chr8120915883120915987E0712348
chr8120917419120917472E0713884
chr8120917580120917634E0714045
chr8120918093120918146E0714558
chr8120918230120918280E0714695
chr8120918861120919568E0715326
chr8120920159120920203E0716624
chr8120920239120920279E0716704
chr8120920592120920646E0717057
chr8120920740120920812E0717205
chr8120920832120920929E0717297
chr8120920964120921702E0717429
chr8120922194120922291E0718659
chr8120924431120924502E07110896
chr8120924567120924771E07111032
chr8120924825120925077E07111290
chr8120925510120925560E07111975
chr8120925704120926048E07112169
chr8120927578120928136E07114043
chr8120928229120928291E07114694
chr8120928532120928584E07114997
chr8120928771120929561E07115236
chr8120930547120930646E07117012
chr8120931145120931277E07117610
chr8120931314120931408E07117779
chr8120931529120931583E07117994
chr8120931595120931645E07118060
chr8120931699120933066E07118164
chr8120933069120933217E07119534
chr8120933427120933477E07119892
chr8120933736120933786E07120201
chr8120933820120933874E07120285
chr8120934512120934775E07120977
chr8120934830120934915E07121295
chr8120934971120935108E07121436
chr8120935147120935200E07121612
chr8120935231120935281E07121696
chr8120935533120935624E07121998
chr8120935689120935739E07122154
chr8120935763120935807E07122228
chr8120936220120936270E07122685
chr8120936603120936643E07123068
chr8120939130120939217E07125595
chr8120944563120944636E07131028
chr8120946577120946854E07133042
chr8120947009120947270E07133474
chr8120954213120954379E07140678
chr8120954486120954569E07140951
chr8120954987120955037E07141452
chr8120955111120955170E07141576
chr8120956671120956721E07143136
chr8120956770120956820E07143235
chr8120957274120957314E07143739
chr8120958043120958166E07144508
chr8120958194120958483E07144659
chr8120958739120958793E07145204
chr8120959416120959466E07145881
chr8120959622120960248E07146087
chr8120888376120888446E072-25089
chr8120888530120888629E072-24906
chr8120889200120889425E072-24110
chr8120889693120889834E072-23701
chr8120889842120889965E072-23570
chr8120895756120895958E072-17577
chr8120896007120896110E072-17425
chr8120896136120896209E072-17326
chr8120898446120898673E072-14862
chr8120898753120898871E072-14664
chr8120898924120899008E072-14527
chr8120899081120899268E072-14267
chr8120899341120899417E072-14118
chr8120899420120899732E072-13803
chr8120899948120899992E072-13543
chr8120901186120901230E072-12305
chr8120901289120901346E072-12189
chr8120901538120901610E072-11925
chr8120903581120903652E072-9883
chr8120903895120904164E072-9371
chr8120904314120904365E072-9170
chr8120904648120905031E072-8504
chr8120905331120905469E072-8066
chr8120905476120905830E072-7705
chr8120906047120906097E072-7438
chr8120907454120908289E072-5246
chr8120908517120908705E072-4830
chr8120908782120908869E072-4666
chr8120911215120911266E072-2269
chr8120911281120911380E072-2155
chr8120911572120911971E072-1564
chr8120915883120915987E0722348
chr8120917303120917400E0723768
chr8120917419120917472E0723884
chr8120917580120917634E0724045
chr8120918861120919568E0725326
chr8120920159120920203E0726624
chr8120920239120920279E0726704
chr8120920592120920646E0727057
chr8120920740120920812E0727205
chr8120920832120920929E0727297
chr8120920964120921702E0727429
chr8120922194120922291E0728659
chr8120923246120923373E0729711
chr8120923429120923527E0729894
chr8120923839120924007E07210304
chr8120924168120924212E07210633
chr8120924431120924502E07210896
chr8120924567120924771E07211032
chr8120924825120925077E07211290
chr8120925510120925560E07211975
chr8120925704120926048E07212169
chr8120926080120926148E07212545
chr8120927578120928136E07214043
chr8120928229120928291E07214694
chr8120928771120929561E07215236
chr8120929636120929865E07216101
chr8120929899120930163E07216364
chr8120930317120930367E07216782
chr8120930547120930646E07217012
chr8120931145120931277E07217610
chr8120931314120931408E07217779
chr8120931529120931583E07217994
chr8120931595120931645E07218060
chr8120933069120933217E07219534
chr8120934830120934915E07221295
chr8120934971120935108E07221436
chr8120935147120935200E07221612
chr8120935231120935281E07221696
chr8120936220120936270E07222685
chr8120936603120936643E07223068
chr8120946577120946854E07233042
chr8120947009120947270E07233474
chr8120948362120948718E07234827
chr8120949717120949822E07236182
chr8120954213120954379E07240678
chr8120954486120954569E07240951
chr8120954987120955037E07241452
chr8120955111120955170E07241576
chr8120955333120955669E07241798
chr8120956671120956721E07243136
chr8120956770120956820E07243235
chr8120957274120957314E07243739
chr8120958043120958166E07244508
chr8120958194120958483E07244659
chr8120959416120959466E07245881
chr8120959622120960248E07246087
chr8120885238120885278E073-28257
chr8120885296120885346E073-28189
chr8120889200120889425E073-24110
chr8120889693120889834E073-23701
chr8120903190120903251E073-10284
chr8120903295120903382E073-10153
chr8120903581120903652E073-9883
chr8120903895120904164E073-9371
chr8120904314120904365E073-9170
chr8120904648120905031E073-8504
chr8120905331120905469E073-8066
chr8120905476120905830E073-7705
chr8120907454120908289E073-5246
chr8120908517120908705E073-4830
chr8120908782120908869E073-4666
chr8120915883120915987E0732348
chr8120924825120925077E07311290
chr8120933069120933217E07319534
chr8120934830120934915E07321295
chr8120934971120935108E07321436
chr8120935147120935200E07321612
chr8120936220120936270E07322685
chr8120939130120939217E07325595
chr8120959416120959466E07345881
chr8120959622120960248E07346087
chr8120888376120888446E074-25089
chr8120888530120888629E074-24906
chr8120889200120889425E074-24110
chr8120889693120889834E074-23701
chr8120889842120889965E074-23570
chr8120896007120896110E074-17425
chr8120896136120896209E074-17326
chr8120896359120896409E074-17126
chr8120898065120898109E074-15426
chr8120898446120898673E074-14862
chr8120898753120898871E074-14664
chr8120898924120899008E074-14527
chr8120899081120899268E074-14267
chr8120899341120899417E074-14118
chr8120899420120899732E074-13803
chr8120899948120899992E074-13543
chr8120901186120901230E074-12305
chr8120901289120901346E074-12189
chr8120901538120901610E074-11925
chr8120903027120903126E074-10409
chr8120903190120903251E074-10284
chr8120903295120903382E074-10153
chr8120903581120903652E074-9883
chr8120903895120904164E074-9371
chr8120904314120904365E074-9170
chr8120904648120905031E074-8504
chr8120905331120905469E074-8066
chr8120905476120905830E074-7705
chr8120906047120906097E074-7438
chr8120907454120908289E074-5246
chr8120917303120917400E0743768
chr8120917419120917472E0743884
chr8120917580120917634E0744045
chr8120918093120918146E0744558
chr8120918230120918280E0744695
chr8120918861120919568E0745326
chr8120920159120920203E0746624
chr8120920239120920279E0746704
chr8120920592120920646E0747057
chr8120920740120920812E0747205
chr8120920832120920929E0747297
chr8120920964120921702E0747429
chr8120922194120922291E0748659
chr8120923839120924007E07410304
chr8120924168120924212E07410633
chr8120924431120924502E07410896
chr8120924567120924771E07411032
chr8120924825120925077E07411290
chr8120925510120925560E07411975
chr8120925704120926048E07412169
chr8120926080120926148E07412545
chr8120928771120929561E07415236
chr8120929636120929865E07416101
chr8120929899120930163E07416364
chr8120931145120931277E07417610
chr8120931314120931408E07417779
chr8120931529120931583E07417994
chr8120931595120931645E07418060
chr8120931699120933066E07418164
chr8120933069120933217E07419534
chr8120933427120933477E07419892
chr8120934512120934775E07420977
chr8120934830120934915E07421295
chr8120934971120935108E07421436
chr8120935147120935200E07421612
chr8120935231120935281E07421696
chr8120939130120939217E07425595
chr8120940459120940509E07426924
chr8120940771120940848E07427236
chr8120946577120946854E07433042
chr8120947009120947270E07433474
chr8120954213120954379E07440678
chr8120954486120954569E07440951
chr8120954987120955037E07441452
chr8120955111120955170E07441576
chr8120956671120956721E07443136
chr8120956770120956820E07443235
chr8120957274120957314E07443739
chr8120958739120958793E07445204
chr8120959416120959466E07445881
chr8120959622120960248E07446087
chr8120931145120931277E08117610
chr8120931314120931408E08117779
chr8120931529120931583E08117994
chr8120931595120931645E08118060
chr8120931699120933066E08118164
chr8120933069120933217E08119534
chr8120903895120904164E082-9371
chr8120933069120933217E08219534










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8120867487120869535E067-44000
chr8120875926120875989E067-37546
chr8120885406120887301E067-26234
chr8120887407120887453E067-26082
chr8120887566120887742E067-25793
chr8120887801120887877E067-25658
chr8120867487120869535E068-44000
chr8120885406120887301E068-26234
chr8120887407120887453E068-26082
chr8120887566120887742E068-25793
chr8120887801120887877E068-25658
chr8120867487120869535E069-44000
chr8120885406120887301E069-26234
chr8120887407120887453E069-26082
chr8120887566120887742E069-25793
chr8120887801120887877E069-25658
chr8120867487120869535E070-44000
chr8120885406120887301E070-26234
chr8120867487120869535E071-44000
chr8120875926120875989E071-37546
chr8120885406120887301E071-26234
chr8120887407120887453E071-26082
chr8120887566120887742E071-25793
chr8120887801120887877E071-25658
chr8120867487120869535E072-44000
chr8120885406120887301E072-26234
chr8120887407120887453E072-26082
chr8120887566120887742E072-25793
chr8120887801120887877E072-25658
chr8120867487120869535E073-44000
chr8120875926120875989E073-37546
chr8120885406120887301E073-26234
chr8120887407120887453E073-26082
chr8120887566120887742E073-25793
chr8120887801120887877E073-25658
chr8120867487120869535E074-44000
chr8120885406120887301E074-26234
chr8120887407120887453E074-26082
chr8120887566120887742E074-25793
chr8120887801120887877E074-25658
chr8120867487120869535E081-44000
chr8120885406120887301E081-26234
chr8120867487120869535E082-44000
chr8120885406120887301E082-26234