rs6763338

Homo sapiens
C>A
SLC12A8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0109 (3277/29944,GnomAD)
A=0096 (2812/29118,TOPMED)
A=0084 (421/5008,1000G)
A=0156 (600/3854,ALSPAC)
A=0150 (555/3708,TWINSUK)
chr3:125168389 (GRCh38.p7) (3q21.2)
ND
GWASdb2
1   publication(s)
See rs on genome
168 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.125168389C>A
GRCh37.p13 chr 3NC_000003.11:g.124887233C>A
SLC12A8 RefSeqGeneNG_027706.1:g.49377G>T

Gene: SLC12A8, solute carrier family 12 member 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC12A8 transcript variant 2NM_001195483.1:c.N/AIntron Variant
SLC12A8 transcript variant 1NM_024628.5:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.973A=0.027
1000GenomesAmericanSub694C=0.910A=0.090
1000GenomesEast AsianSub1008C=0.999A=0.001
1000GenomesEuropeSub1006C=0.824A=0.176
1000GenomesGlobalStudy-wide5008C=0.916A=0.084
1000GenomesSouth AsianSub978C=0.850A=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.844A=0.156
The Genome Aggregation DatabaseAfricanSub8716C=0.962A=0.038
The Genome Aggregation DatabaseAmericanSub838C=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1620C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18470C=0.848A=0.151
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.890A=0.109
The Genome Aggregation DatabaseOtherSub300C=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.903A=0.096
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.850A=0.150
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs67633380.000673nicotine dependence17158188

eQTL of rs6763338 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 rs6763338 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 )
chr3124841497124841672E067-45561
chr3124847449124848955E067-38278
chr3124849499124849601E067-37632
chr3124849701124849751E067-37482
chr3124861580124861648E067-25585
chr3124874692124875235E067-11998
chr3124904623124904824E06717390
chr3124905047124905643E06717814
chr3124905734124905869E06718501
chr3124838106124838317E068-48916
chr3124841497124841672E068-45561
chr3124847449124848955E068-38278
chr3124849027124849169E068-38064
chr3124859578124859641E068-27592
chr3124859707124859797E068-27436
chr3124859811124860337E068-26896
chr3124861580124861648E068-25585
chr3124861700124861829E068-25404
chr3124862185124862235E068-24998
chr3124865535124865579E068-21654
chr3124866107124866328E068-20905
chr3124866370124866571E068-20662
chr3124867580124868114E068-19119
chr3124868307124868389E068-18844
chr3124904623124904824E06817390
chr3124905047124905643E06817814
chr3124905734124905869E06818501
chr3124913297124914338E06826064
chr3124841497124841672E069-45561
chr3124847449124848955E069-38278
chr3124849027124849169E069-38064
chr3124849499124849601E069-37632
chr3124849701124849751E069-37482
chr3124861580124861648E069-25585
chr3124861700124861829E069-25404
chr3124861926124862113E069-25120
chr3124862185124862235E069-24998
chr3124867580124868114E069-19119
chr3124874692124875235E069-11998
chr3124884106124884291E069-2942
chr3124904623124904824E06917390
chr3124905047124905643E06917814
chr3124905734124905869E06918501
chr3124838106124838317E070-48916
chr3124841497124841672E070-45561
chr3124847449124848955E070-38278
chr3124849027124849169E070-38064
chr3124849282124849400E070-37833
chr3124849499124849601E070-37632
chr3124859811124860337E070-26896
chr3124861580124861648E070-25585
chr3124861700124861829E070-25404
chr3124861926124862113E070-25120
chr3124862185124862235E070-24998
chr3124862473124862767E070-24466
chr3124862930124863087E070-24146
chr3124863116124863505E070-23728
chr3124863603124863706E070-23527
chr3124867400124867454E070-19779
chr3124867580124868114E070-19119
chr3124868307124868389E070-18844
chr3124904623124904824E07017390
chr3124905047124905643E07017814
chr3124905734124905869E07018501
chr3124932269124932569E07045036
chr3124932612124932889E07045379
chr3124932940124933141E07045707
chr3124933146124933318E07045913
chr3124841497124841672E071-45561
chr3124847449124848955E071-38278
chr3124859578124859641E071-27592
chr3124859707124859797E071-27436
chr3124859811124860337E071-26896
chr3124861580124861648E071-25585
chr3124861700124861829E071-25404
chr3124861926124862113E071-25120
chr3124862185124862235E071-24998
chr3124862473124862767E071-24466
chr3124862930124863087E071-24146
chr3124863116124863505E071-23728
chr3124863603124863706E071-23527
chr3124865535124865579E071-21654
chr3124867400124867454E071-19779
chr3124867580124868114E071-19119
chr3124884106124884291E071-2942
chr3124884299124884377E071-2856
chr3124898862124898951E07111629
chr3124904623124904824E07117390
chr3124905047124905643E07117814
chr3124847449124848955E072-38278
chr3124849499124849601E072-37632
chr3124849701124849751E072-37482
chr3124850030124850080E072-37153
chr3124859811124860337E072-26896
chr3124867580124868114E072-19119
chr3124874692124875235E072-11998
chr3124898862124898951E07211629
chr3124904623124904824E07217390
chr3124905047124905643E07217814
chr3124905734124905869E07218501
chr3124932612124932889E07245379
chr3124838106124838317E073-48916
chr3124842626124842780E073-44453
chr3124842784124843013E073-44220
chr3124847449124848955E073-38278
chr3124849027124849169E073-38064
chr3124849282124849400E073-37833
chr3124849499124849601E073-37632
chr3124849701124849751E073-37482
chr3124850030124850080E073-37153
chr3124859578124859641E073-27592
chr3124859707124859797E073-27436
chr3124859811124860337E073-26896
chr3124861580124861648E073-25585
chr3124861700124861829E073-25404
chr3124861926124862113E073-25120
chr3124867580124868114E073-19119
chr3124904623124904824E07317390
chr3124905047124905643E07317814
chr3124905734124905869E07318501
chr3124932269124932569E07345036
chr3124838106124838317E074-48916
chr3124861580124861648E074-25585
chr3124867580124868114E074-19119
chr3124874692124875235E074-11998
chr3124898862124898951E07411629
chr3124904623124904824E07417390
chr3124905047124905643E07417814
chr3124838507124840426E081-46807
chr3124840579124840782E081-46451
chr3124847449124848955E081-38278
chr3124867580124868114E081-19119
chr3124868307124868389E081-18844
chr3124871688124871789E081-15444
chr3124871828124872209E081-15024
chr3124874692124875235E081-11998
chr3124875460124875668E081-11565
chr3124875841124875934E081-11299
chr3124884106124884291E081-2942
chr3124884299124884377E081-2856
chr3124885032124885114E081-2119
chr3124887629124887819E081396
chr3124887866124888116E081633
chr3124888404124888454E0811171
chr3124888576124888642E0811343
chr3124888678124888767E0811445
chr3124904313124904581E08117080
chr3124904623124904824E08117390
chr3124905047124905643E08117814
chr3124905734124905869E08118501
chr3124932269124932569E08145036
chr3124838106124838317E082-48916
chr3124840579124840782E082-46451
chr3124847449124848955E082-38278
chr3124849027124849169E082-38064
chr3124849499124849601E082-37632
chr3124849701124849751E082-37482
chr3124874692124875235E082-11998
chr3124875460124875668E082-11565
chr3124887629124887819E082396
chr3124887866124888116E082633
chr3124888404124888454E0821171
chr3124888576124888642E0821343
chr3124888678124888767E0821445
chr3124904313124904581E08217080
chr3124904623124904824E08217390
chr3124905047124905643E08217814
chr3124905734124905869E08218501










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3124930429124931220E06743196
chr3124931245124931407E06744012
chr3124931428124931679E06744195
chr3124931725124931809E06744492
chr3124930429124931220E06843196
chr3124931245124931407E06844012
chr3124931428124931679E06844195
chr3124931245124931407E06944012
chr3124931428124931679E06944195
chr3124931725124931809E06944492
chr3124930429124931220E07143196
chr3124930429124931220E07243196
chr3124931245124931407E07244012
chr3124931428124931679E07244195
chr3124930429124931220E07343196
chr3124931245124931407E07344012
chr3124931428124931679E07344195
chr3124931725124931809E07344492
chr3124930429124931220E07443196
chr3124931245124931407E07444012
chr3124931428124931679E07444195
chr3124931725124931809E07444492
chr3124930429124931220E08243196
chr3124931245124931407E08244012
chr3124931428124931679E08244195
chr3124931725124931809E08244492