rs274551

Homo sapiens
T>C
SLC22A5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0246 (7387/29944,GnomAD)
T==0303 (8822/29118,TOPMED)
T==0252 (1260/5008,1000G)
T==0151 (581/3854,ALSPAC)
T==0172 (637/3708,TWINSUK)
chr5:132391988 (GRCh38.p7) (5q31.1)
ND
GWASdb2
3   publication(s)
See rs on genome
286 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.132391988T>C
GRCh37.p13 chr 5NC_000005.9:g.131727680T>C
SLC22A5 RefSeqGeneNG_008982.1:g.27280T>C

Gene: SLC22A5, solute carrier family 22 member 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC22A5 transcript variant 1NM_001308122.1:c.N/AIntron Variant
SLC22A5 transcript variant 2NM_003060.3:c.N/AIntron Variant
SLC22A5 transcript variant X4XM_011543590.2:c.N/AIntron Variant
SLC22A5 transcript variant X1XM_017009778.1:c.N/AIntron Variant
SLC22A5 transcript variant X2XR_001742215.1:n.N/AIntron Variant
SLC22A5 transcript variant X6XR_001742216.1:n.N/AIntron Variant
SLC22A5 transcript variant X5XR_427718.2:n.N/AIntron Variant
SLC22A5 transcript variant X3XR_948290.2:n.N/AIntron Variant
SLC22A5 transcript variant X7XR_948291.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.533C=0.467
1000GenomesAmericanSub694T=0.220C=0.780
1000GenomesEast AsianSub1008T=0.098C=0.902
1000GenomesEuropeSub1006T=0.148C=0.852
1000GenomesGlobalStudy-wide5008T=0.252C=0.748
1000GenomesSouth AsianSub978T=0.160C=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.151C=0.849
The Genome Aggregation DatabaseAfricanSub8706T=0.481C=0.519
The Genome Aggregation DatabaseAmericanSub836T=0.210C=0.790
The Genome Aggregation DatabaseEast AsianSub1618T=0.087C=0.913
The Genome Aggregation DatabaseEuropeSub18482T=0.153C=0.846
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.246C=0.753
The Genome Aggregation DatabaseOtherSub302T=0.170C=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.303C=0.697
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.172C=0.828
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
19840389Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.Naka IMalar J
17476680Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease.de Ridder LInflamm Bowel Dis

P-Value

SNP ID p-value Traits Study
rs2745515.5E-05alcohol and nictotine co-dependence20158304

eQTL of rs274551 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:131727680AC034220.3ENSG00000233006.2T>C2.1378e-2122340Caudate_basal_ganglia

meQTL of rs274551 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 )
chr5131699074131699472E067-28208
chr5131699499131699648E067-28032
chr5131699917131699986E067-27694
chr5131700026131700407E067-27273
chr5131707436131707509E067-20171
chr5131707821131707871E067-19809
chr5131707896131708545E067-19135
chr5131711958131712012E067-15668
chr5131712130131712199E067-15481
chr5131712316131712379E067-15301
chr5131712431131712500E067-15180
chr5131712843131713311E067-14369
chr5131713640131713782E067-13898
chr5131720990131721593E067-6087
chr5131721645131721722E067-5958
chr5131721780131721864E067-5816
chr5131722968131723082E067-4598
chr5131730845131730885E0673165
chr5131752735131753055E06725055
chr5131753115131753189E06725435
chr5131754698131754811E06727018
chr5131754900131756028E06727220
chr5131756204131756321E06728524
chr5131756356131756990E06728676
chr5131756993131757132E06729313
chr5131757215131757564E06729535
chr5131760381131760492E06732701
chr5131760587131760686E06732907
chr5131761898131765866E06734218
chr5131772775131772924E06745095
chr5131774663131774999E06746983
chr5131775065131775764E06747385
chr5131699074131699472E068-28208
chr5131699499131699648E068-28032
chr5131699917131699986E068-27694
chr5131700026131700407E068-27273
chr5131700438131700517E068-27163
chr5131706898131707404E068-20276
chr5131707436131707509E068-20171
chr5131707821131707871E068-19809
chr5131707896131708545E068-19135
chr5131711958131712012E068-15668
chr5131712130131712199E068-15481
chr5131712316131712379E068-15301
chr5131713640131713782E068-13898
chr5131713871131713974E068-13706
chr5131720990131721593E068-6087
chr5131721645131721722E068-5958
chr5131721780131721864E068-5816
chr5131721963131722007E068-5673
chr5131722198131722901E068-4779
chr5131730139131730259E0682459
chr5131730457131730660E0682777
chr5131730845131730885E0683165
chr5131750364131751122E06822684
chr5131752138131752311E06824458
chr5131752735131753055E06825055
chr5131753115131753189E06825435
chr5131753200131753261E06825520
chr5131753298131753356E06825618
chr5131754698131754811E06827018
chr5131754900131756028E06827220
chr5131756993131757132E06829313
chr5131760587131760686E06832907
chr5131760734131761891E06833054
chr5131761898131765866E06834218
chr5131770427131770908E06842747
chr5131772993131773913E06845313
chr5131774475131774647E06846795
chr5131774663131774999E06846983
chr5131775065131775764E06847385
chr5131678514131678928E069-48752
chr5131699074131699472E069-28208
chr5131699499131699648E069-28032
chr5131699917131699986E069-27694
chr5131700026131700407E069-27273
chr5131700438131700517E069-27163
chr5131707821131707871E069-19809
chr5131707896131708545E069-19135
chr5131711958131712012E069-15668
chr5131712130131712199E069-15481
chr5131712316131712379E069-15301
chr5131712431131712500E069-15180
chr5131713640131713782E069-13898
chr5131713871131713974E069-13706
chr5131714349131714540E069-13140
chr5131720990131721593E069-6087
chr5131721645131721722E069-5958
chr5131721780131721864E069-5816
chr5131721963131722007E069-5673
chr5131722198131722901E069-4779
chr5131752735131753055E06925055
chr5131753115131753189E06925435
chr5131753200131753261E06925520
chr5131753298131753356E06925618
chr5131754698131754811E06927018
chr5131754900131756028E06927220
chr5131756204131756321E06928524
chr5131756356131756990E06928676
chr5131756993131757132E06929313
chr5131757215131757564E06929535
chr5131759219131759336E06931539
chr5131761898131765866E06934218
chr5131772288131772423E06944608
chr5131772775131772924E06945095
chr5131772993131773913E06945313
chr5131774475131774647E06946795
chr5131774663131774999E06946983
chr5131775065131775764E06947385
chr5131711958131712012E070-15668
chr5131712130131712199E070-15481
chr5131712316131712379E070-15301
chr5131712431131712500E070-15180
chr5131754698131754811E07027018
chr5131754900131756028E07027220
chr5131756204131756321E07028524
chr5131756356131756990E07028676
chr5131678514131678928E071-48752
chr5131699074131699472E071-28208
chr5131699499131699648E071-28032
chr5131699917131699986E071-27694
chr5131700026131700407E071-27273
chr5131700438131700517E071-27163
chr5131706898131707404E071-20276
chr5131707436131707509E071-20171
chr5131707821131707871E071-19809
chr5131707896131708545E071-19135
chr5131711958131712012E071-15668
chr5131712130131712199E071-15481
chr5131712316131712379E071-15301
chr5131713640131713782E071-13898
chr5131720990131721593E071-6087
chr5131721645131721722E071-5958
chr5131721780131721864E071-5816
chr5131721963131722007E071-5673
chr5131722198131722901E071-4779
chr5131730139131730259E0712459
chr5131730457131730660E0712777
chr5131730845131730885E0713165
chr5131750175131750360E07122495
chr5131750364131751122E07122684
chr5131751484131751589E07123804
chr5131752138131752311E07124458
chr5131752735131753055E07125055
chr5131753115131753189E07125435
chr5131753200131753261E07125520
chr5131753298131753356E07125618
chr5131754698131754811E07127018
chr5131754900131756028E07127220
chr5131756204131756321E07128524
chr5131756356131756990E07128676
chr5131756993131757132E07129313
chr5131761898131765866E07134218
chr5131766082131766198E07138402
chr5131766535131766764E07138855
chr5131769752131770342E07142072
chr5131770427131770908E07142747
chr5131772775131772924E07145095
chr5131772993131773913E07145313
chr5131774475131774647E07146795
chr5131774663131774999E07146983
chr5131775065131775764E07147385
chr5131699074131699472E072-28208
chr5131699499131699648E072-28032
chr5131699917131699986E072-27694
chr5131700026131700407E072-27273
chr5131700438131700517E072-27163
chr5131707821131707871E072-19809
chr5131707896131708545E072-19135
chr5131712316131712379E072-15301
chr5131720990131721593E072-6087
chr5131721645131721722E072-5958
chr5131721780131721864E072-5816
chr5131721963131722007E072-5673
chr5131722198131722901E072-4779
chr5131730139131730259E0722459
chr5131730457131730660E0722777
chr5131730845131730885E0723165
chr5131744786131744885E07217106
chr5131745117131745167E07217437
chr5131752138131752311E07224458
chr5131752735131753055E07225055
chr5131753115131753189E07225435
chr5131754698131754811E07227018
chr5131754900131756028E07227220
chr5131756204131756321E07228524
chr5131756356131756990E07228676
chr5131760587131760686E07232907
chr5131760734131761891E07233054
chr5131761898131765866E07234218
chr5131774475131774647E07246795
chr5131774663131774999E07246983
chr5131775065131775764E07247385
chr5131699074131699472E073-28208
chr5131699499131699648E073-28032
chr5131699917131699986E073-27694
chr5131707436131707509E073-20171
chr5131707821131707871E073-19809
chr5131707896131708545E073-19135
chr5131711958131712012E073-15668
chr5131712130131712199E073-15481
chr5131712316131712379E073-15301
chr5131712431131712500E073-15180
chr5131713640131713782E073-13898
chr5131720990131721593E073-6087
chr5131721645131721722E073-5958
chr5131721780131721864E073-5816
chr5131721963131722007E073-5673
chr5131722198131722901E073-4779
chr5131723198131724825E073-2855
chr5131724847131725130E073-2550
chr5131745117131745167E07317437
chr5131754698131754811E07327018
chr5131754900131756028E07327220
chr5131756204131756321E07328524
chr5131756356131756990E07328676
chr5131756993131757132E07329313
chr5131757215131757564E07329535
chr5131758280131759109E07330600
chr5131759219131759336E07331539
chr5131761898131765866E07334218
chr5131772775131772924E07345095
chr5131774475131774647E07346795
chr5131774663131774999E07346983
chr5131678514131678928E074-48752
chr5131699074131699472E074-28208
chr5131699499131699648E074-28032
chr5131699917131699986E074-27694
chr5131700026131700407E074-27273
chr5131700438131700517E074-27163
chr5131707896131708545E074-19135
chr5131711958131712012E074-15668
chr5131712130131712199E074-15481
chr5131712316131712379E074-15301
chr5131712431131712500E074-15180
chr5131712843131713311E074-14369
chr5131720990131721593E074-6087
chr5131721645131721722E074-5958
chr5131721780131721864E074-5816
chr5131721963131722007E074-5673
chr5131722198131722901E074-4779
chr5131730139131730259E0742459
chr5131730457131730660E0742777
chr5131730845131730885E0743165
chr5131745117131745167E07417437
chr5131750364131751122E07422684
chr5131752138131752311E07424458
chr5131752735131753055E07425055
chr5131753115131753189E07425435
chr5131753200131753261E07425520
chr5131753298131753356E07425618
chr5131753738131753813E07426058
chr5131754698131754811E07427018
chr5131754900131756028E07427220
chr5131756204131756321E07428524
chr5131756356131756990E07428676
chr5131756993131757132E07429313
chr5131757215131757564E07429535
chr5131761898131765866E07434218
chr5131766082131766198E07438402
chr5131769752131770342E07442072
chr5131770427131770908E07442747
chr5131771071131771220E07443391
chr5131771667131772000E07443987
chr5131772775131772924E07445095
chr5131774475131774647E07446795
chr5131774663131774999E07446983
chr5131775065131775764E07447385
chr5131706898131707404E081-20276
chr5131707436131707509E081-20171
chr5131707821131707871E081-19809
chr5131711958131712012E081-15668
chr5131712130131712199E081-15481
chr5131712316131712379E081-15301
chr5131712431131712500E081-15180
chr5131712682131712737E081-14943
chr5131712843131713311E081-14369
chr5131713640131713782E081-13898
chr5131713871131713974E081-13706
chr5131706898131707404E082-20276
chr5131707436131707509E082-20171
chr5131707821131707871E082-19809
chr5131711958131712012E082-15668
chr5131712130131712199E082-15481
chr5131713640131713782E082-13898
chr5131713871131713974E082-13706










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5131704738131705946E067-21734
chr5131705991131706458E067-21222
chr5131745833131747975E06718153
chr5131704738131705946E068-21734
chr5131705991131706458E068-21222
chr5131745833131747975E06818153
chr5131704738131705946E069-21734
chr5131705991131706458E069-21222
chr5131745833131747975E06918153
chr5131704738131705946E070-21734
chr5131705991131706458E070-21222
chr5131745833131747975E07018153
chr5131704738131705946E071-21734
chr5131705991131706458E071-21222
chr5131745833131747975E07118153
chr5131704738131705946E072-21734
chr5131705991131706458E072-21222
chr5131745833131747975E07218153
chr5131704738131705946E073-21734
chr5131705991131706458E073-21222
chr5131745833131747975E07318153
chr5131704738131705946E074-21734
chr5131705991131706458E074-21222
chr5131745833131747975E07418153
chr5131704738131705946E081-21734
chr5131705991131706458E081-21222
chr5131704738131705946E082-21734
chr5131705991131706458E082-21222
chr5131745833131747975E08218153