rs7288826

Homo sapiens
G>T
NPTXR : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0154 (4614/29858,GnomAD)
T=0152 (4440/29114,TOPMED)
T=0137 (685/5008,1000G)
T=0187 (720/3854,ALSPAC)
T=0182 (674/3708,TWINSUK)
chr22:38818769 (GRCh38.p7) (22q13.1)
ND
GWASdb2
2   publication(s)
See rs on genome
416 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.38818769G>T
GRCh37.p13 chr 22NC_000022.10:g.39214774G>T

Gene: NPTXR, neuronal pentraxin receptor(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NPTXR transcriptNM_014293.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.916T=0.084
1000GenomesAmericanSub694G=0.890T=0.110
1000GenomesEast AsianSub1008G=0.899T=0.101
1000GenomesEuropeSub1006G=0.783T=0.217
1000GenomesGlobalStudy-wide5008G=0.863T=0.137
1000GenomesSouth AsianSub978G=0.820T=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.813T=0.187
The Genome Aggregation DatabaseAfricanSub8690G=0.883T=0.117
The Genome Aggregation DatabaseAmericanSub836G=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1618G=0.902T=0.098
The Genome Aggregation DatabaseEuropeSub18414G=0.820T=0.179
The Genome Aggregation DatabaseGlobalStudy-wide29858G=0.845T=0.154
The Genome Aggregation DatabaseOtherSub300G=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.847T=0.152
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.818T=0.182
PMID Title Author Journal
25390939MicroRNA related polymorphisms and breast cancer risk.Khan SPLoS One
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs72888262.13E-05alcohol and nictotine co-dependence20158304

eQTL of rs7288826 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 rs7288826 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 )
chr223916516739165196E067-49578
chr223916524539165408E067-49366
chr223917292839172978E067-41796
chr223917321639173372E067-41402
chr223917359439173644E067-41130
chr223917383239173895E067-40879
chr223917395239174002E067-40772
chr223917410439174184E067-40590
chr223917690139177203E067-37571
chr223917721439177309E067-37465
chr223917731039177681E067-37093
chr223917777339177832E067-36942
chr223917800639178105E067-36669
chr223917817139178231E067-36543
chr223917823939178279E067-36495
chr223917842039178483E067-36291
chr223917853739178690E067-36084
chr223918134639182274E067-32500
chr223918259939183197E067-31577
chr223918395239185279E067-29495
chr223922041039220461E0675636
chr223922051139220924E0675737
chr223922695239227242E06712178
chr223922724639227520E06712472
chr223922773639228684E06712962
chr223922870839228919E06713934
chr223922933739229450E06714563
chr223923031439230377E06715540
chr223923361439233671E06718840
chr223923428239234324E06719508
chr223925712339257385E06742349
chr223925739339257862E06742619
chr223925806539258380E06743291
chr223925841339258491E06743639
chr223925858139259103E06743807
chr223926021239260262E06745438
chr223926029639260841E06745522
chr223926091339261125E06746139
chr223926124739261346E06746473
chr223926139039261463E06746616
chr223926147039261610E06746696
chr223926164139261885E06746867
chr223926405039264620E06749276
chr223916967039169710E068-45064
chr223916979539169845E068-44929
chr223917197139172077E068-42697
chr223917213539172225E068-42549
chr223917233939172454E068-42320
chr223917292839172978E068-41796
chr223917321639173372E068-41402
chr223917359439173644E068-41130
chr223917383239173895E068-40879
chr223917395239174002E068-40772
chr223917690139177203E068-37571
chr223917721439177309E068-37465
chr223917731039177681E068-37093
chr223917777339177832E068-36942
chr223917800639178105E068-36669
chr223917817139178231E068-36543
chr223917823939178279E068-36495
chr223917842039178483E068-36291
chr223917853739178690E068-36084
chr223917869939179284E068-35490
chr223918090539181239E068-33535
chr223918134639182274E068-32500
chr223918259939183197E068-31577
chr223918364739183790E068-30984
chr223918395239185279E068-29495
chr223918860339188700E068-26074
chr223922724639227520E06812472
chr223922773639228684E06812962
chr223922870839228919E06813934
chr223922933739229450E06814563
chr223923848639238568E06823712
chr223925739339257862E06842619
chr223925806539258380E06843291
chr223925841339258491E06843639
chr223925858139259103E06843807
chr223925911439259283E06844340
chr223925930939259388E06844535
chr223925946139259522E06844687
chr223925960139259781E06844827
chr223926029639260841E06845522
chr223926091339261125E06846139
chr223926124739261346E06846473
chr223926139039261463E06846616
chr223926147039261610E06846696
chr223926164139261885E06846867
chr223926405039264620E06849276
chr223916516739165196E069-49578
chr223916524539165408E069-49366
chr223917053839170761E069-44013
chr223917080639170911E069-43863
chr223917095239171002E069-43772
chr223917106339171184E069-43590
chr223917233939172454E069-42320
chr223917292839172978E069-41796
chr223917321639173372E069-41402
chr223917690139177203E069-37571
chr223917721439177309E069-37465
chr223917731039177681E069-37093
chr223917777339177832E069-36942
chr223917800639178105E069-36669
chr223917817139178231E069-36543
chr223917823939178279E069-36495
chr223917842039178483E069-36291
chr223917853739178690E069-36084
chr223917869939179284E069-35490
chr223917943939179518E069-35256
chr223918090539181239E069-33535
chr223918134639182274E069-32500
chr223918259939183197E069-31577
chr223918353039183583E069-31191
chr223918364739183790E069-30984
chr223918395239185279E069-29495
chr223922041039220461E0695636
chr223922051139220924E0695737
chr223922695239227242E06912178
chr223922724639227520E06912472
chr223922773639228684E06912962
chr223922870839228919E06913934
chr223922933739229450E06914563
chr223923078539230835E06916011
chr223923107639231206E06916302
chr223924103239241206E06926258
chr223925739339257862E06942619
chr223925806539258380E06943291
chr223925841339258491E06943639
chr223925858139259103E06943807
chr223925911439259283E06944340
chr223925930939259388E06944535
chr223926091339261125E06946139
chr223926124739261346E06946473
chr223926139039261463E06946616
chr223926147039261610E06946696
chr223926164139261885E06946867
chr223926405039264620E06949276
chr223916516739165196E070-49578
chr223916524539165408E070-49366
chr223917159639171713E070-43061
chr223917197139172077E070-42697
chr223917213539172225E070-42549
chr223917233939172454E070-42320
chr223918090539181239E070-33535
chr223918134639182274E070-32500
chr223918395239185279E070-29495
chr223918538339185433E070-29341
chr223922724639227520E07012472
chr223922933739229450E07014563
chr223923031439230377E07015540
chr223923041939230486E07015645
chr223923196339232210E07017189
chr223923224039232298E07017466
chr223923238639232457E07017612
chr223923354239233592E07018768
chr223923428239234324E07019508
chr223923438139234444E07019607
chr223923445039234550E07019676
chr223923510939235246E07020335
chr223924103239241206E07026258
chr223924121139241595E07026437
chr223925712339257385E07042349
chr223925739339257862E07042619
chr223925806539258380E07043291
chr223925946139259522E07044687
chr223925960139259781E07044827
chr223925980239260111E07045028
chr223926021239260262E07045438
chr223926029639260841E07045522
chr223926091339261125E07046139
chr223926124739261346E07046473
chr223926139039261463E07046616
chr223926147039261610E07046696
chr223926164139261885E07046867
chr223926227839262665E07047504
chr223926270539262824E07047931
chr223926285539263025E07048081
chr223926307339263343E07048299
chr223926335639263997E07048582
chr223926405039264620E07049276
chr223916516739165196E071-49578
chr223916524539165408E071-49366
chr223917197139172077E071-42697
chr223917213539172225E071-42549
chr223917233939172454E071-42320
chr223918090539181239E071-33535
chr223918134639182274E071-32500
chr223918259939183197E071-31577
chr223918353039183583E071-31191
chr223918364739183790E071-30984
chr223918395239185279E071-29495
chr223918538339185433E071-29341
chr223922695239227242E07112178
chr223922724639227520E07112472
chr223922773639228684E07112962
chr223922870839228919E07113934
chr223922933739229450E07114563
chr223923614239236242E07121368
chr223925712339257385E07142349
chr223925739339257862E07142619
chr223925806539258380E07143291
chr223925841339258491E07143639
chr223925858139259103E07143807
chr223925911439259283E07144340
chr223925930939259388E07144535
chr223925946139259522E07144687
chr223925960139259781E07144827
chr223925980239260111E07145028
chr223926021239260262E07145438
chr223926029639260841E07145522
chr223926091339261125E07146139
chr223926124739261346E07146473
chr223926139039261463E07146616
chr223926147039261610E07146696
chr223926164139261885E07146867
chr223926405039264620E07149276
chr223916516739165196E072-49578
chr223916524539165408E072-49366
chr223917136939171419E072-43355
chr223917143039171524E072-43250
chr223917159639171713E072-43061
chr223917197139172077E072-42697
chr223917213539172225E072-42549
chr223917233939172454E072-42320
chr223917292839172978E072-41796
chr223917321639173372E072-41402
chr223917359439173644E072-41130
chr223917531639175399E072-39375
chr223917690139177203E072-37571
chr223917721439177309E072-37465
chr223917731039177681E072-37093
chr223917777339177832E072-36942
chr223917800639178105E072-36669
chr223917817139178231E072-36543
chr223917823939178279E072-36495
chr223917842039178483E072-36291
chr223917959239179677E072-35097
chr223917968439179887E072-34887
chr223918010539180166E072-34608
chr223918027239180486E072-34288
chr223918090539181239E072-33535
chr223918134639182274E072-32500
chr223918259939183197E072-31577
chr223918353039183583E072-31191
chr223918364739183790E072-30984
chr223918395239185279E072-29495
chr223922041039220461E0725636
chr223922051139220924E0725737
chr223922650239226629E07211728
chr223922663539226689E07211861
chr223922695239227242E07212178
chr223922724639227520E07212472
chr223922773639228684E07212962
chr223922870839228919E07213934
chr223922933739229450E07214563
chr223923031439230377E07215540
chr223923041939230486E07215645
chr223923061939230689E07215845
chr223923078539230835E07216011
chr223923107639231206E07216302
chr223923126939231388E07216495
chr223923581939236008E07221045
chr223925712339257385E07242349
chr223925739339257862E07242619
chr223925806539258380E07243291
chr223925841339258491E07243639
chr223925858139259103E07243807
chr223925911439259283E07244340
chr223926029639260841E07245522
chr223926091339261125E07246139
chr223926124739261346E07246473
chr223926139039261463E07246616
chr223926147039261610E07246696
chr223916516739165196E073-49578
chr223916524539165408E073-49366
chr223916560039165739E073-49035
chr223916578039165824E073-48950
chr223916598139166031E073-48743
chr223917159639171713E073-43061
chr223917197139172077E073-42697
chr223917213539172225E073-42549
chr223917233939172454E073-42320
chr223917292839172978E073-41796
chr223917321639173372E073-41402
chr223917359439173644E073-41130
chr223917690139177203E073-37571
chr223918134639182274E073-32500
chr223918259939183197E073-31577
chr223918353039183583E073-31191
chr223918364739183790E073-30984
chr223918395239185279E073-29495
chr223922604239226132E07311268
chr223922623739226287E07311463
chr223922695239227242E07312178
chr223922724639227520E07312472
chr223922773639228684E07312962
chr223922870839228919E07313934
chr223922933739229450E07314563
chr223923031439230377E07315540
chr223923041939230486E07315645
chr223923061939230689E07315845
chr223923078539230835E07316011
chr223925668739256847E07341913
chr223925688739256982E07342113
chr223925698839257111E07342214
chr223925712339257385E07342349
chr223925739339257862E07342619
chr223925806539258380E07343291
chr223925841339258491E07343639
chr223925858139259103E07343807
chr223925911439259283E07344340
chr223925930939259388E07344535
chr223925946139259522E07344687
chr223925960139259781E07344827
chr223925980239260111E07345028
chr223926021239260262E07345438
chr223926029639260841E07345522
chr223926091339261125E07346139
chr223926124739261346E07346473
chr223926139039261463E07346616
chr223926147039261610E07346696
chr223926164139261885E07346867
chr223926227839262665E07347504
chr223926270539262824E07347931
chr223926285539263025E07348081
chr223926307339263343E07348299
chr223926335639263997E07348582
chr223926405039264620E07349276
chr223916516739165196E074-49578
chr223916524539165408E074-49366
chr223918134639182274E074-32500
chr223918259939183197E074-31577
chr223918395239185279E074-29495
chr223922695239227242E07412178
chr223922724639227520E07412472
chr223922773639228684E07412962
chr223922870839228919E07413934
chr223922933739229450E07414563
chr223923031439230377E07415540
chr223923848639238568E07423712
chr223925806539258380E07443291
chr223925841339258491E07443639
chr223925858139259103E07443807
chr223926091339261125E07446139
chr223926405039264620E07449276
chr223916516739165196E081-49578
chr223916524539165408E081-49366
chr223917321639173372E081-41402
chr223917943939179518E081-35256
chr223917959239179677E081-35097
chr223918010539180166E081-34608
chr223918027239180486E081-34288
chr223918090539181239E081-33535
chr223922663539226689E08111861
chr223922724639227520E08112472
chr223922773639228684E08112962
chr223922870839228919E08113934
chr223922933739229450E08114563
chr223923614239236242E08121368
chr223924103239241206E08126258
chr223924121139241595E08126437
chr223924905839249779E08134284
chr223925611939256671E08141345
chr223925668739256847E08141913
chr223925688739256982E08142113
chr223925698839257111E08142214
chr223925712339257385E08142349
chr223925739339257862E08142619
chr223925806539258380E08143291
chr223926029639260841E08145522
chr223926091339261125E08146139
chr223926124739261346E08146473
chr223926139039261463E08146616
chr223926270539262824E08147931
chr223926285539263025E08148081
chr223926307339263343E08148299
chr223917869939179284E082-35490
chr223917932939179421E082-35353
chr223917943939179518E082-35256
chr223917959239179677E082-35097
chr223917968439179887E082-34887
chr223918010539180166E082-34608
chr223918027239180486E082-34288
chr223918090539181239E082-33535
chr223918134639182274E082-32500
chr223918395239185279E082-29495
chr223922604239226132E08211268
chr223922623739226287E08211463
chr223922650239226629E08211728
chr223922663539226689E08211861
chr223922695239227242E08212178
chr223922724639227520E08212472
chr223922870839228919E08213934
chr223922933739229450E08214563
chr223923573839235788E08220964
chr223924103239241206E08226258
chr223924121139241595E08226437
chr223924483439244926E08230060
chr223924499339245082E08230219
chr223924515239245206E08230378
chr223924591139246081E08231137
chr223924905839249779E08234284
chr223925611939256671E08241345
chr223925668739256847E08241913
chr223925688739256982E08242113
chr223925698839257111E08242214
chr223925712339257385E08242349
chr223925739339257862E08242619
chr223925806539258380E08243291
chr223926029639260841E08245522
chr223926091339261125E08246139
chr223926124739261346E08246473
chr223926139039261463E08246616
chr223926147039261610E08246696
chr223926164139261885E08246867
chr223926405039264620E08249276










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr223918883139190813E067-23961
chr223923872539238823E06723951
chr223923892739240236E06724153
chr223918883139190813E068-23961
chr223923872539238823E06823951
chr223923892739240236E06824153
chr223918883139190813E069-23961
chr223923645839236792E06921684
chr223923705639237106E06922282
chr223923872539238823E06923951
chr223923892739240236E06924153
chr223924024639240684E06925472
chr223918883139190813E070-23961
chr223923645839236792E07021684
chr223923705639237106E07022282
chr223923872539238823E07023951
chr223923892739240236E07024153
chr223924024639240684E07025472
chr223918883139190813E071-23961
chr223923705639237106E07122282
chr223923872539238823E07123951
chr223923892739240236E07124153
chr223924024639240684E07125472
chr223918883139190813E072-23961
chr223923645839236792E07221684
chr223923705639237106E07222282
chr223923872539238823E07223951
chr223923892739240236E07224153
chr223924024639240684E07225472
chr223918883139190813E073-23961
chr223923645839236792E07321684
chr223923705639237106E07322282
chr223923872539238823E07323951
chr223923892739240236E07324153
chr223924024639240684E07325472
chr223918883139190813E074-23961
chr223923872539238823E07423951
chr223918883139190813E081-23961
chr223923872539238823E08123951
chr223918883139190813E082-23961
chr223923645839236792E08221684
chr223923705639237106E08222282
chr223923872539238823E08223951
chr223923892739240236E08224153
chr223924024639240684E08225472