rs28760505

Homo sapiens
C>T
FAM117B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0465 (13928/29930,GnomAD)
C==0394 (11491/29118,TOPMED)
C==0492 (2464/5008,1000G)
C==0438 (1689/3854,ALSPAC)
C==0456 (1691/3708,TWINSUK)
chr2:202671092 (GRCh38.p7) (2q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.202671092C>T
GRCh37.p13 chr 2NC_000002.11:g.203535815C>T

Gene: FAM117B, family with sequence similarity 117 member B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM117B transcriptNM_173511.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.287T=0.713
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.747T=0.253
1000GenomesEuropeSub1006C=0.467T=0.533
1000GenomesGlobalStudy-wide5008C=0.492T=0.508
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.438T=0.562
The Genome Aggregation DatabaseAfricanSub8696C=0.337T=0.663
The Genome Aggregation DatabaseAmericanSub838C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1612C=0.785T=0.215
The Genome Aggregation DatabaseEuropeSub18482C=0.493T=0.506
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.465T=0.534
The Genome Aggregation DatabaseOtherSub302C=0.380T=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.394T=0.605
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.456T=0.544
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
rs287605050.00098alcohol dependence20201924

eQTL of rs28760505 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 rs28760505 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 )
chr2203498656203498787E067-37028
chr2203508511203508609E067-27206
chr2203536042203536113E068227
chr2203536154203536324E068339
chr2203498656203498787E069-37028
chr2203498656203498787E071-37028
chr2203512936203512978E072-22837
chr2203498434203498478E081-37337
chr2203498656203498787E081-37028
chr2203502036203502076E081-33739
chr2203505566203505661E081-30154
chr2203511285203511325E081-24490
chr2203531137203531371E081-4444
chr2203531687203531821E081-3994
chr2203532346203532408E081-3407
chr2203536042203536113E081227
chr2203536154203536324E081339
chr2203536589203536685E081774
chr2203511285203511325E082-24490







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2203498791203501362E067-34453
chr2203501399203501501E067-34314
chr2203498791203501362E068-34453
chr2203501399203501501E068-34314
chr2203498791203501362E069-34453
chr2203501399203501501E069-34314
chr2203501525203501580E069-34235
chr2203498791203501362E070-34453
chr2203501399203501501E070-34314
chr2203501525203501580E070-34235
chr2203498791203501362E071-34453
chr2203501399203501501E071-34314
chr2203498791203501362E072-34453
chr2203501399203501501E072-34314
chr2203498791203501362E073-34453
chr2203501399203501501E073-34314
chr2203501525203501580E073-34235
chr2203498791203501362E074-34453
chr2203498791203501362E081-34453
chr2203501399203501501E081-34314
chr2203501525203501580E081-34235
chr2203498791203501362E082-34453
chr2203501399203501501E082-34314
chr2203501525203501580E082-34235