rs2041567

Homo sapiens
T>C
LOC107986765 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0203 (6085/29938,GnomAD)
T==0189 (5530/29118,TOPMED)
T==0099 (496/5008,1000G)
T==0248 (957/3854,ALSPAC)
T==0261 (968/3708,TWINSUK)
chr7:7932706 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.7932706T>C
GRCh37.p13 chr 7NC_000007.13:g.7972337T>C

Gene: LOC107986765, uncharacterized LOC107986765(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986765 transcript variant X2XR_001745079.1:n.N/AIntron Variant
LOC107986765 transcript variant X1XR_001745078.1:n.N/AGenic Upstream Transcript Variant
LOC107986765 transcript variant X3XR_001745080.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.108C=0.892
1000GenomesAmericanSub694T=0.110C=0.890
1000GenomesEast AsianSub1008T=0.001C=0.999
1000GenomesEuropeSub1006T=0.231C=0.769
1000GenomesGlobalStudy-wide5008T=0.099C=0.901
1000GenomesSouth AsianSub978T=0.040C=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.248C=0.752
The Genome Aggregation DatabaseAfricanSub8724T=0.123C=0.877
The Genome Aggregation DatabaseAmericanSub836T=0.150C=0.850
The Genome Aggregation DatabaseEast AsianSub1612T=0.000C=1.000
The Genome Aggregation DatabaseEuropeSub18464T=0.259C=0.741
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.203C=0.796
The Genome Aggregation DatabaseOtherSub302T=0.350C=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.189C=0.810
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.261C=0.739
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
rs20415670.00094alcohol dependence20201924

eQTL of rs2041567 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 rs2041567 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 )
chr780147538014811E06742416
chr780149148015039E06742577
chr780174418017720E06745104
chr779596277959715E068-12622
chr779597467959799E068-12538
chr779616217961734E068-10603
chr779617417961835E068-10502
chr779619327962329E068-10008
chr779627407962861E068-9476
chr779632587963338E068-8999
chr779633477963567E068-8770
chr779836067985268E06811269
chr780125128012593E06840175
chr780126528012756E06840315
chr780147538014811E06842416
chr780149148015039E06842577
chr780150888015141E06842751
chr779323057932355E069-39982
chr779617417961835E069-10502
chr779619327962329E069-10008
chr779624027962604E069-9733
chr779626227962695E069-9642
chr779627407962861E069-9476
chr779632587963338E069-8999
chr779633477963567E069-8770
chr779342987934383E070-37954
chr779345057934622E070-37715
chr779346467935135E070-37202
chr779352367935341E070-36996
chr779354147935652E070-36685
chr779598807960008E070-12329
chr779600887960458E070-11879
chr779605377960581E070-11756
chr779606187960719E070-11618
chr779608107960878E070-11459
chr779610467961112E070-11225
chr779616217961734E070-10603
chr779617417961835E070-10502
chr779619327962329E070-10008
chr779624027962604E070-9733
chr779626227962695E070-9642
chr779627407962861E070-9476
chr779632587963338E070-8999
chr779633477963567E070-8770
chr779636187963729E070-8608
chr779637457963896E070-8441
chr779639817964181E070-8156
chr780171068017193E07044769
chr780174418017720E07045104
chr780191548019299E07046817
chr780193378019483E07047000
chr780195598019625E07047222
chr780198988020085E07047561
chr779342987934383E071-37954
chr779616217961734E071-10603
chr779617417961835E071-10502
chr779619327962329E071-10008
chr779636187963729E071-8608
chr780125128012593E07140175
chr780126528012756E07140315
chr780129718013274E07140634
chr780133148013418E07140977
chr779323057932355E072-39982
chr779600887960458E072-11879
chr779605377960581E072-11756
chr779606187960719E072-11618
chr779608107960878E072-11459
chr779616217961734E072-10603
chr779617417961835E072-10502
chr779619327962329E072-10008
chr779624027962604E072-9733
chr780171068017193E07344769
chr779590047959554E074-12783
chr779596277959715E074-12622
chr779597467959799E074-12538
chr779598807960008E074-12329
chr779600887960458E074-11879
chr779605377960581E074-11756
chr779606187960719E074-11618
chr779608107960878E074-11459
chr779610467961112E074-11225
chr779613927961442E074-10895
chr779616217961734E074-10603
chr779617417961835E074-10502
chr779619327962329E074-10008
chr779636187963729E074-8608
chr780125128012593E07440175
chr780129718013274E07440634
chr779323057932355E081-39982
chr779332547933304E081-39033
chr780125128012593E08140175
chr780126528012756E08140315
chr780129718013274E08140634
chr780129718013274E08240634










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr780074838011594E06735146
chr780074838011594E06835146
chr780074838011594E06935146
chr780074838011594E07035146
chr780073268007470E07134989
chr780074838011594E07135146
chr780074838011594E07235146
chr780074838011594E07335146
chr780074838011594E07435146
chr780074838011594E08135146
chr780074838011594E08235146