rs2387207

Homo sapiens
C>T
LOC105377765 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0431 (12877/29848,GnomAD)
T=0411 (11983/29118,TOPMED)
T=0429 (2147/5008,1000G)
T=0455 (1755/3854,ALSPAC)
T=0434 (1609/3708,TWINSUK)
chr5:180684144 (GRCh38.p7) (5q35.3)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.180684144C>T
GRCh37.p13 chr 5NC_000005.9:g.180111144C>T

Gene: LOC105377765, uncharacterized LOC105377765(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377765 transcriptXR_941329.1:n.49C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.582T=0.418
1000GenomesAmericanSub694C=0.530T=0.470
1000GenomesEast AsianSub1008C=0.668T=0.332
1000GenomesEuropeSub1006C=0.559T=0.441
1000GenomesGlobalStudy-wide5008C=0.571T=0.429
1000GenomesSouth AsianSub978C=0.500T=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.545T=0.455
The Genome Aggregation DatabaseAfricanSub8680C=0.585T=0.415
The Genome Aggregation DatabaseAmericanSub834C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1606C=0.682T=0.318
The Genome Aggregation DatabaseEuropeSub18426C=0.551T=0.448
The Genome Aggregation DatabaseGlobalStudy-wide29848C=0.568T=0.431
The Genome Aggregation DatabaseOtherSub302C=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.588T=0.411
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.566T=0.434
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs23872074.5E-05alcoholismpha002893

eQTL of rs2387207 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 rs2387207 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 )
chr5180096315180096683E067-14461
chr5180096966180097085E067-14059
chr5180097147180097272E067-13872
chr5180096966180097085E068-14059
chr5180097147180097272E068-13872
chr5180097367180097817E068-13327
chr5180096315180096683E069-14461
chr5180096966180097085E069-14059
chr5180097147180097272E069-13872
chr5180096315180096683E071-14461
chr5180096966180097085E071-14059
chr5180097147180097272E071-13872
chr5180096315180096683E072-14461
chr5180096966180097085E072-14059
chr5180097147180097272E072-13872
chr5180097367180097817E072-13327
chr5180096966180097085E073-14059
chr5180097147180097272E073-13872
chr5180096315180096683E074-14461
chr5180096966180097085E074-14059
chr5180097147180097272E074-13872
chr5180096966180097085E081-14059
chr5180097147180097272E081-13872
chr5180097367180097817E081-13327
chr5180097367180097817E082-13327









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5180100404180100626E067-10518
chr5180100643180101294E067-9850
chr5180076792180077026E068-34118
chr5180077262180077435E068-33709
chr5180100404180100626E068-10518
chr5180100643180101294E068-9850
chr5180101363180101432E068-9712
chr5180076379180076457E069-34687
chr5180076458180076514E069-34630
chr5180076569180076776E069-34368
chr5180076792180077026E069-34118
chr5180077262180077435E069-33709
chr5180100404180100626E069-10518
chr5180100643180101294E069-9850
chr5180101363180101432E069-9712
chr5180076379180076457E070-34687
chr5180076458180076514E070-34630
chr5180076569180076776E070-34368
chr5180100643180101294E070-9850
chr5180101363180101432E070-9712
chr5180075640180075838E071-35306
chr5180075869180076080E071-35064
chr5180076121180076322E071-34822
chr5180076379180076457E071-34687
chr5180076458180076514E071-34630
chr5180076569180076776E071-34368
chr5180076792180077026E071-34118
chr5180075869180076080E072-35064
chr5180076121180076322E072-34822
chr5180076379180076457E072-34687
chr5180076458180076514E072-34630
chr5180076569180076776E072-34368
chr5180100643180101294E072-9850
chr5180101363180101432E072-9712
chr5180100404180100626E073-10518
chr5180100643180101294E073-9850
chr5180101363180101432E073-9712
chr5180076792180077026E074-34118
chr5180077262180077435E074-33709
chr5180075640180075838E082-35306
chr5180075869180076080E082-35064
chr5180076121180076322E082-34822
chr5180076379180076457E082-34687
chr5180076458180076514E082-34630
chr5180076569180076776E082-34368
chr5180076792180077026E082-34118
chr5180100643180101294E082-9850
chr5180101363180101432E082-9712