rs2095369

Homo sapiens
A>G
LOC107986655 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0289 (8638/29870,GnomAD)
G=0276 (8053/29118,TOPMED)
G=0339 (1698/5008,1000G)
G=0266 (1024/3854,ALSPAC)
G=0253 (937/3708,TWINSUK)
chr6:142949079 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
219 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.142949079A>G
GRCh37.p13 chr 6NC_000006.11:g.143270216A>G
HIVEP2 RefSeqGeneNG_047004.1:g.1123T>C

Gene: LOC107986655, uncharacterized LOC107986655(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986655 transcript variant X1XR_001744396.1:n....XR_001744396.1:n.2931A>GA>GNon Coding Transcript Variant
LOC107986655 transcript variant X2XR_001744397.1:n....XR_001744397.1:n.2931A>GA>GNon Coding Transcript Variant
LOC107986655 transcript variant X3XR_001744398.1:n.N/AIntron Variant
LOC107986655 transcript variant X4XR_001744399.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.749G=0.251
1000GenomesAmericanSub694A=0.610G=0.390
1000GenomesEast AsianSub1008A=0.545G=0.455
1000GenomesEuropeSub1006A=0.723G=0.277
1000GenomesGlobalStudy-wide5008A=0.661G=0.339
1000GenomesSouth AsianSub978A=0.630G=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.734G=0.266
The Genome Aggregation DatabaseAfricanSub8706A=0.721G=0.279
The Genome Aggregation DatabaseAmericanSub834A=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1618A=0.557G=0.443
The Genome Aggregation DatabaseEuropeSub18410A=0.721G=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29870A=0.710G=0.289
The Genome Aggregation DatabaseOtherSub302A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.723G=0.276
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.747G=0.253
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs20953690.00039alcohol dependence(early age of onset)20201924
rs20953690.00053alcohol dependence20201924

eQTL of rs2095369 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 rs2095369 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 )
chr6143220367143221100E067-49116
chr6143221113143221157E067-49059
chr6143221494143222342E067-47874
chr6143222711143222779E067-47437
chr6143222857143222952E067-47264
chr6143222956143223025E067-47191
chr6143223033143223102E067-47114
chr6143223439143224489E067-45727
chr6143232482143233088E067-37128
chr6143236217143236338E067-33878
chr6143236408143236890E067-33326
chr6143251130143251863E067-18353
chr6143259543143259583E067-10633
chr6143259739143259999E067-10217
chr6143260045143260145E067-10071
chr6143260215143260289E067-9927
chr6143260337143260480E067-9736
chr6143260572143260668E067-9548
chr6143260759143260822E067-9394
chr6143260857143260963E067-9253
chr6143261472143261530E067-8686
chr6143261582143262141E067-8075
chr6143262170143262440E067-7776
chr6143262460143262542E067-7674
chr6143262672143262926E067-7290
chr6143262985143263390E067-6826
chr6143263804143264623E067-5593
chr6143220367143221100E068-49116
chr6143221113143221157E068-49059
chr6143222482143222614E068-47602
chr6143222711143222779E068-47437
chr6143222857143222952E068-47264
chr6143222956143223025E068-47191
chr6143223033143223102E068-47114
chr6143223439143224489E068-45727
chr6143236408143236890E068-33326
chr6143249636143249749E068-20467
chr6143254968143255027E068-15189
chr6143255077143255127E068-15089
chr6143255195143255245E068-14971
chr6143255491143255673E068-14543
chr6143255894143255986E068-14230
chr6143256064143256188E068-14028
chr6143260337143260480E068-9736
chr6143220367143221100E069-49116
chr6143221113143221157E069-49059
chr6143222482143222614E069-47602
chr6143222711143222779E069-47437
chr6143222857143222952E069-47264
chr6143222956143223025E069-47191
chr6143223033143223102E069-47114
chr6143223439143224489E069-45727
chr6143224700143225403E069-44813
chr6143236408143236890E069-33326
chr6143236962143237088E069-33128
chr6143249636143249749E069-20467
chr6143254968143255027E069-15189
chr6143255077143255127E069-15089
chr6143255195143255245E069-14971
chr6143255491143255673E069-14543
chr6143255894143255986E069-14230
chr6143256064143256188E069-14028
chr6143259739143259999E069-10217
chr6143260045143260145E069-10071
chr6143260572143260668E069-9548
chr6143263804143264623E069-5593
chr6143220367143221100E070-49116
chr6143221113143221157E070-49059
chr6143258958143259194E070-11022
chr6143259195143259404E070-10812
chr6143259543143259583E070-10633
chr6143220367143221100E071-49116
chr6143221113143221157E071-49059
chr6143222482143222614E071-47602
chr6143222711143222779E071-47437
chr6143222857143222952E071-47264
chr6143222956143223025E071-47191
chr6143223033143223102E071-47114
chr6143223439143224489E071-45727
chr6143236408143236890E071-33326
chr6143236962143237088E071-33128
chr6143240182143240232E071-29984
chr6143240257143240394E071-29822
chr6143246575143246626E071-23590
chr6143255195143255245E071-14971
chr6143255491143255673E071-14543
chr6143255894143255986E071-14230
chr6143256064143256188E071-14028
chr6143256334143256384E071-13832
chr6143259195143259404E071-10812
chr6143259543143259583E071-10633
chr6143259739143259999E071-10217
chr6143260045143260145E071-10071
chr6143260215143260289E071-9927
chr6143260337143260480E071-9736
chr6143260572143260668E071-9548
chr6143260759143260822E071-9394
chr6143260857143260963E071-9253
chr6143261472143261530E071-8686
chr6143261582143262141E071-8075
chr6143262170143262440E071-7776
chr6143262460143262542E071-7674
chr6143262672143262926E071-7290
chr6143262985143263390E071-6826
chr6143220367143221100E072-49116
chr6143221113143221157E072-49059
chr6143222482143222614E072-47602
chr6143222711143222779E072-47437
chr6143222857143222952E072-47264
chr6143222956143223025E072-47191
chr6143223033143223102E072-47114
chr6143223439143224489E072-45727
chr6143236217143236338E072-33878
chr6143236408143236890E072-33326
chr6143249636143249749E072-20467
chr6143254968143255027E072-15189
chr6143255077143255127E072-15089
chr6143255195143255245E072-14971
chr6143255491143255673E072-14543
chr6143259543143259583E072-10633
chr6143259739143259999E072-10217
chr6143260045143260145E072-10071
chr6143260215143260289E072-9927
chr6143260337143260480E072-9736
chr6143260572143260668E072-9548
chr6143261582143262141E072-8075
chr6143262170143262440E072-7776
chr6143262460143262542E072-7674
chr6143262672143262926E072-7290
chr6143220367143221100E073-49116
chr6143221113143221157E073-49059
chr6143221368143221433E073-48783
chr6143223439143224489E073-45727
chr6143236408143236890E073-33326
chr6143236962143237088E073-33128
chr6143246575143246626E073-23590
chr6143255491143255673E073-14543
chr6143255894143255986E073-14230
chr6143256064143256188E073-14028
chr6143261582143262141E073-8075
chr6143262170143262440E073-7776
chr6143262460143262542E073-7674
chr6143263804143264623E073-5593
chr6143220367143221100E074-49116
chr6143221113143221157E074-49059
chr6143222482143222614E074-47602
chr6143222711143222779E074-47437
chr6143222857143222952E074-47264
chr6143222956143223025E074-47191
chr6143223033143223102E074-47114
chr6143223439143224489E074-45727
chr6143232482143233088E074-37128
chr6143233152143233253E074-36963
chr6143236217143236338E074-33878
chr6143236408143236890E074-33326
chr6143238951143239001E074-31215
chr6143239142143239222E074-30994
chr6143239267143239307E074-30909
chr6143239566143239825E074-30391
chr6143240182143240232E074-29984
chr6143240257143240394E074-29822
chr6143249636143249749E074-20467
chr6143253889143254143E074-16073
chr6143254968143255027E074-15189
chr6143255077143255127E074-15089
chr6143255195143255245E074-14971
chr6143255491143255673E074-14543
chr6143255894143255986E074-14230
chr6143256064143256188E074-14028
chr6143256334143256384E074-13832
chr6143260215143260289E074-9927
chr6143260337143260480E074-9736
chr6143260572143260668E074-9548
chr6143260759143260822E074-9394
chr6143261582143262141E074-8075
chr6143262170143262440E074-7776
chr6143262460143262542E074-7674
chr6143262672143262926E074-7290
chr6143262985143263390E074-6826
chr6143263804143264623E074-5593
chr6143220367143221100E081-49116
chr6143221113143221157E081-49059
chr6143221368143221433E081-48783
chr6143221494143222342E081-47874
chr6143222482143222614E081-47602
chr6143222711143222779E081-47437
chr6143252602143252687E081-17529
chr6143252890143252994E081-17222
chr6143253054143253257E081-16959
chr6143253333143253435E081-16781
chr6143253468143253573E081-16643
chr6143253889143254143E081-16073
chr6143258681143258735E081-11481
chr6143258958143259194E081-11022
chr6143259195143259404E081-10812
chr6143259543143259583E081-10633
chr6143259739143259999E081-10217
chr6143260045143260145E081-10071
chr6143260215143260289E081-9927
chr6143260337143260480E081-9736
chr6143260572143260668E081-9548
chr6143260759143260822E081-9394
chr6143260857143260963E081-9253
chr6143261582143262141E081-8075
chr6143262170143262440E081-7776
chr6143262460143262542E081-7674
chr6143262672143262926E081-7290
chr6143262985143263390E081-6826
chr6143220367143221100E082-49116
chr6143221113143221157E082-49059
chr6143221368143221433E082-48783
chr6143221494143222342E082-47874
chr6143258044143258229E082-11987
chr6143258263143258303E082-11913
chr6143258377143258573E082-11643
chr6143258681143258735E082-11481
chr6143258958143259194E082-11022
chr6143259739143259999E082-10217
chr6143261582143262141E082-8075










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6143246698143249633E067-20583
chr6143264634143269672E067-544
chr6143264634143269672E068-544
chr6143246698143249633E069-20583
chr6143264634143269672E069-544
chr6143264634143269672E070-544
chr6143264634143269672E071-544
chr6143246698143249633E072-20583
chr6143264634143269672E072-544
chr6143246698143249633E073-20583
chr6143264634143269672E073-544
chr6143246698143249633E074-20583
chr6143264634143269672E074-544
chr6143264634143269672E081-544
chr6143264634143269672E082-544