rs2252795

Homo sapiens
A>G
TESPA1 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0258 (7728/29926,GnomAD)
A==0259 (7547/29118,TOPMED)
A==0242 (1213/5008,1000G)
A==0258 (994/3854,ALSPAC)
A==0258 (956/3708,TWINSUK)
chr12:54949844 (GRCh38.p7) (12q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
91 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.54949844A>G
GRCh37.p13 chr 12NC_000012.11:g.55343628A>G

Gene: TESPA1, thymocyte expressed, positive selection associated 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TESPA1 transcript variant 1NM_001136030.2:c.N/A3 Prime UTR Variant
TESPA1 transcript variant 2NM_001098815.2:c.N/A3 Prime UTR Variant
TESPA1 transcript variant 3NM_014796.2:c.N/A3 Prime UTR Variant
TESPA1 transcript variant 4NM_001261844.1:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X4XM_011539036.1:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X1XM_017020262.1:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X2XM_006719715.3:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X3XM_011539035.2:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X4XM_017020263.1:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X7XM_011539037.2:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X7XM_005269247.2:c.N/A3 Prime UTR Variant
TESPA1 transcript variant X5XR_001748928.1:n....XR_001748928.1:n.3772T>CT>CNon Coding Transcript Variant
TESPA1 transcript variant X8XR_944847.2:n.238...XR_944847.2:n.2383T>CT>CNon Coding Transcript Variant
TESPA1 transcript variant X9XR_001748929.1:n....XR_001748929.1:n.2543T>CT>CNon Coding Transcript Variant
TESPA1 transcript variant X10XR_001748930.1:n....XR_001748930.1:n.6764T>CT>CNon Coding Transcript Variant
TESPA1 transcript variant X8XR_001748931.1:n....XR_001748931.1:n.2167T>CT>CNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.275G=0.725
1000GenomesAmericanSub694A=0.280G=0.720
1000GenomesEast AsianSub1008A=0.265G=0.735
1000GenomesEuropeSub1006A=0.252G=0.748
1000GenomesGlobalStudy-wide5008A=0.242G=0.758
1000GenomesSouth AsianSub978A=0.140G=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.258G=0.742
The Genome Aggregation DatabaseAfricanSub8700A=0.287G=0.713
The Genome Aggregation DatabaseAmericanSub838A=0.270G=0.730
The Genome Aggregation DatabaseEast AsianSub1618A=0.252G=0.748
The Genome Aggregation DatabaseEuropeSub18470A=0.244G=0.755
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.258G=0.741
The Genome Aggregation DatabaseOtherSub300A=0.250G=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.259G=0.740
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.258G=0.742
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22527950.000832alcohol dependence21314694

eQTL of rs2252795 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 rs2252795 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 )
chr125533500555335218E067-8410
chr125533556655336365E067-7263
chr125536971155369886E06726083
chr125536989555369995E06726267
chr125536999755370119E06726369
chr125537015055370315E06726522
chr125537033955370432E06726711
chr125537074455370979E06727116
chr125538160055381903E06737972
chr125538226455382796E06738636
chr125538318255383232E06739554
chr125533003655330076E068-13552
chr125533046155330595E068-13033
chr125533469055334994E068-8634
chr125533500555335218E068-8410
chr125533556655336365E068-7263
chr125535457255354730E06810944
chr125535500555355145E06811377
chr125535517155355221E06811543
chr125535535555355408E06811727
chr125535556755355680E06811939
chr125536913055369426E06825502
chr125536971155369886E06826083
chr125536989555369995E06826267
chr125536999755370119E06826369
chr125537015055370315E06826522
chr125537033955370432E06826711
chr125537074455370979E06827116
chr125537100455371438E06827376
chr125538318255383232E06839554
chr125538333455383414E06839706
chr125533469055334994E069-8634
chr125533500555335218E069-8410
chr125533556655336365E069-7263
chr125536913055369426E06925502
chr125536971155369886E06926083
chr125536989555369995E06926267
chr125536999755370119E06926369
chr125538160055381903E06937972
chr125538191655382022E06938288
chr125538226455382796E06938636
chr125538318255383232E06939554
chr125533469055334994E070-8634
chr125533500555335218E070-8410
chr125533556655336365E070-7263
chr125538318255383232E07039554
chr125538333455383414E07039706
chr125538353155383931E07039903
chr125539164055391746E07048012
chr125539176055392208E07048132
chr125533469055334994E071-8634
chr125533556655336365E071-7263
chr125536913055369426E07125502
chr125536971155369886E07126083
chr125536989555369995E07126267
chr125536999755370119E07126369
chr125537015055370315E07126522
chr125537033955370432E07126711
chr125537074455370979E07127116
chr125538226455382796E07138636
chr125538318255383232E07139554
chr125538333455383414E07139706
chr125533469055334994E072-8634
chr125533500555335218E072-8410
chr125533556655336365E072-7263
chr125536841655368496E07224788
chr125536913055369426E07225502
chr125536971155369886E07226083
chr125536989555369995E07226267
chr125536999755370119E07226369
chr125537015055370315E07226522
chr125537033955370432E07226711
chr125537074455370979E07227116
chr125538318255383232E07239554
chr125538333455383414E07239706
chr125538353155383931E07239903
chr125533469055334994E073-8634
chr125533500555335218E073-8410
chr125533556655336365E073-7263
chr125537074455370979E07327116
chr125533469055334994E074-8634
chr125533500555335218E074-8410
chr125533556655336365E074-7263
chr125536971155369886E07426083
chr125536989555369995E07426267
chr125536999755370119E07426369
chr125537015055370315E07426522
chr125537033955370432E07426711
chr125537074455370979E07427116
chr125537100455371438E07427376
chr125538318255383232E07439554