rs137878

Homo sapiens
G>A
TTLL8 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0223 (6689/29950,GnomAD)
A=0215 (6260/29114,TOPMED)
A=0199 (998/5008,1000G)
A=0258 (993/3854,ALSPAC)
A=0246 (913/3708,TWINSUK)
chr22:50018362 (GRCh38.p7) (22q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.50018362G>A
GRCh37.p13 chr 22NC_000022.10:g.50456791G>A

Gene: TTLL8, uncharacterized TTLL8(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
TTLL8 transcript variant X1XM_017029176.1:c.N/ADownstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.852A=0.148
1000GenomesAmericanSub694G=0.740A=0.260
1000GenomesEast AsianSub1008G=0.831A=0.169
1000GenomesEuropeSub1006G=0.734A=0.266
1000GenomesGlobalStudy-wide5008G=0.801A=0.199
1000GenomesSouth AsianSub978G=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.742A=0.258
The Genome Aggregation DatabaseAfricanSub8726G=0.834A=0.166
The Genome Aggregation DatabaseAmericanSub834G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1614G=0.830A=0.170
The Genome Aggregation DatabaseEuropeSub18476G=0.751A=0.248
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.776A=0.223
The Genome Aggregation DatabaseOtherSub300G=0.640A=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.785A=0.215
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.754A=0.246
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
rs1378780.00043alcohol dependence(early age of onset)20201924
rs1378780.00069alcohol dependence20201924

eQTL of rs137878 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 rs137878 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 )
chr225043144050431515E067-25276
chr225043154550432229E067-24562
chr225043238350432433E067-24358
chr225043144050431515E068-25276
chr225043154550432229E068-24562
chr225043238350432433E068-24358
chr225043261450432812E068-23979
chr225043072850430786E069-26005
chr225043144050431515E069-25276
chr225043154550432229E069-24562
chr225043238350432433E069-24358
chr225043261450432812E069-23979
chr225043302750433077E069-23714
chr225043311850433350E069-23441
chr225043351550433619E069-23172
chr225046601150466928E0699220
chr225043154550432229E070-24562
chr225043144050431515E071-25276
chr225043154550432229E071-24562
chr225043238350432433E071-24358
chr225043261450432812E071-23979
chr225043302750433077E071-23714
chr225043311850433350E071-23441
chr225043054450430605E072-26186
chr225043072850430786E072-26005
chr225043144050431515E072-25276
chr225043154550432229E072-24562
chr225043238350432433E072-24358
chr225043261450432812E072-23979
chr225043302750433077E072-23714
chr225043311850433350E072-23441
chr225046819250469486E07211401
chr225043154550432229E073-24562
chr225043409950434165E073-22626
chr225046601150466928E0739220
chr225046699750467081E07310206
chr225046819250469486E07311401
chr225043154550432229E074-24562
chr225043238350432433E074-24358
chr225043261450432812E074-23979
chr225043302750433077E074-23714
chr225043311850433350E074-23441
chr225043351550433619E074-23172
chr225046819250469486E08111401
chr225049851250498671E08241721
chr225049869850498782E08241907










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr225049693550497231E06940144
chr225049724750497320E06940456
chr225049680150496934E07040010
chr225049693550497231E07040144
chr225049693550497231E07340144
chr225049724750497320E07340456
chr225045323450453337E074-3454
chr225049724750497320E07440456
chr225045355650453827E082-2964
chr225049680150496934E08240010
chr225049693550497231E08240144
chr225049724750497320E08240456