rs17683205

Homo sapiens
C>T
TJP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0093 (2794/29966,GnomAD)
T=0094 (2739/29118,TOPMED)
T=0137 (688/5008,1000G)
T=0095 (366/3854,ALSPAC)
T=0098 (364/3708,TWINSUK)
chr15:29709124 (GRCh38.p7) (15q13.1)
ND
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.29709124C>T
GRCh37.p13 chr 15NC_000015.9:g.30001328C>T
GRCh38.p7 chr 15 fix patch HG2139_PATCHNW_011332701.1:g.1880770C>T
GRCh38.p7 chr 15 alt locus HSCHR15_4_CTG8NT_187660.1:g.1993254C>T

Gene: TJP1, tight junction protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TJP1 transcript variant 3NM_001301025.1:c.N/AIntron Variant
TJP1 transcript variant 4NM_001301026.1:c.N/AIntron Variant
TJP1 transcript variant 1NM_003257.4:c.N/AIntron Variant
TJP1 transcript variant 2NM_175610.3:c.N/AIntron Variant
TJP1 transcript variant X5XM_005254617.3:c.N/AIntron Variant
TJP1 transcript variant X11XM_005254618.3:c.N/AIntron Variant
TJP1 transcript variant X9XM_005254619.3:c.N/AIntron Variant
TJP1 transcript variant X10XM_005254620.3:c.N/AIntron Variant
TJP1 transcript variant X4XM_011521972.2:c.N/AIntron Variant
TJP1 transcript variant X1XM_017022521.1:c.N/AIntron Variant
TJP1 transcript variant X2XM_017022522.1:c.N/AIntron Variant
TJP1 transcript variant X3XM_017022523.1:c.N/AIntron Variant
TJP1 transcript variant X5XM_017022524.1:c.N/AIntron Variant
TJP1 transcript variant X6XM_017022525.1:c.N/AIntron Variant
TJP1 transcript variant X7XM_017022526.1:c.N/AIntron Variant
TJP1 transcript variant X8XM_017022527.1:c.N/AIntron Variant
TJP1 transcript variant X13XM_017022528.1:c.N/AIntron Variant
TJP1 transcript variant X14XM_017022529.1:c.N/AIntron Variant
TJP1 transcript variant X15XM_017022530.1:c.N/AIntron Variant
TJP1 transcript variant X11XM_017022531.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.946T=0.054
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.877T=0.123
1000GenomesEuropeSub1006C=0.879T=0.121
1000GenomesGlobalStudy-wide5008C=0.863T=0.137
1000GenomesSouth AsianSub978C=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.905T=0.095
The Genome Aggregation DatabaseAfricanSub8718C=0.931T=0.069
The Genome Aggregation DatabaseAmericanSub836C=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1622C=0.842T=0.158
The Genome Aggregation DatabaseEuropeSub18488C=0.903T=0.096
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.906T=0.093
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.905T=0.094
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.902T=0.098
PMID Title Author Journal
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
rs176832051.07E-05alcohol and nictotine co-dependence20158304

eQTL of rs17683205 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 rs17683205 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 )
chr152996964929969711E067-31617
chr152996983529969879E067-31449
chr152997008329970168E067-31160
chr152999045129990987E067-10341
chr153004136830041589E06740040
chr153004171230042099E06740384
chr153004828330048479E06746955
chr153004863530049541E06747307
chr153004971830049768E06748390
chr152996278629964124E068-37204
chr152996416729964217E068-37111
chr152999045129990987E068-10341
chr152999707929997166E068-4162
chr152999728629997336E068-3992
chr153002073630020900E06819408
chr153002093830021014E06819610
chr153004136830041589E06840040
chr153004171230042099E06840384
chr153004828330048479E06846955
chr153004863530049541E06847307
chr153004971830049768E06848390
chr153004983030049910E06848502
chr153004994330050022E06848615
chr153005005330050224E06848725
chr152997018029970913E069-30415
chr152998473729984795E069-16533
chr152998485529984963E069-16365
chr152998498229985134E069-16194
chr152998516029985229E069-16099
chr153004042430040537E06939096
chr153004089730041014E06939569
chr153004105230041103E06939724
chr153004121530041318E06939887
chr153004136830041589E06940040
chr153004171230042099E06940384
chr153004828330048479E06946955
chr153004863530049541E06947307
chr152996872429968772E070-32556
chr152996884929969575E070-31753
chr152995730929957353E071-43975
chr152996278629964124E071-37204
chr152996416729964217E071-37111
chr153004171230042099E07140384
chr153004828330048479E07146955
chr153004863530049541E07147307
chr152996964929969711E072-31617
chr152996983529969879E072-31449
chr152997008329970168E072-31160
chr152997018029970913E072-30415
chr152998965629989966E072-11362
chr152999014529990321E072-11007
chr152999045129990987E072-10341
chr153004089730041014E07239569
chr153004105230041103E07239724
chr153004121530041318E07239887
chr153004136830041589E07240040
chr153004171230042099E07240384
chr153004740630047456E07246078
chr153004748930047554E07246161
chr153004828330048479E07246955
chr153004863530049541E07247307
chr152995730929957353E073-43975
chr152996278629964124E073-37204
chr152996416729964217E073-37111
chr152997008329970168E073-31160
chr152997018029970913E073-30415
chr153004105230041103E07339724
chr153004121530041318E07339887
chr153004136830041589E07340040
chr153004171230042099E07340384
chr153004863530049541E07347307
chr153004016230040419E07438834
chr153004042430040537E07439096
chr153004136830041589E07440040
chr153004171230042099E07440384
chr153004828330048479E07446955
chr153004863530049541E07447307
chr152995730929957353E081-43975
chr152995751829957572E081-43756
chr152995759529958103E081-43225
chr152995875829958838E081-42490
chr152995902429959074E081-42254
chr152996278629964124E081-37204
chr152996548929965622E081-35706
chr152996569929965739E081-35589
chr152996580429965884E081-35444
chr152996597329966143E081-35185
chr152996872429968772E081-32556
chr152996884929969575E081-31753
chr152996964929969711E081-31617
chr153004863530049541E08147307
chr152995730929957353E082-43975
chr152995751829957572E082-43756
chr152995759529958103E082-43225










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr152996675029967735E067-33593
chr152996777729967848E067-33480
chr152996675029967735E068-33593
chr152996777729967848E068-33480
chr152996675029967735E069-33593
chr152996777729967848E069-33480
chr152996792329968494E069-32834
chr152996667729966745E070-34583
chr152996675029967735E071-33593
chr152996777729967848E071-33480
chr152996667729966745E072-34583
chr152996675029967735E072-33593
chr152996777729967848E072-33480
chr152996792329968494E072-32834
chr152996652329966588E073-34740
chr152996667729966745E073-34583
chr152996675029967735E073-33593
chr152996777729967848E073-33480
chr152996792329968494E073-32834
chr152996675029967735E074-33593
chr152996777729967848E074-33480
chr152996667729966745E082-34583
chr152996675029967735E082-33593
chr152996777729967848E082-33480
chr152996792329968494E082-32834