rs4780986

Homo sapiens
A>G
TEKT5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0383 (11472/29928,GnomAD)
G=0369 (10761/29118,TOPMED)
G=0336 (1684/5008,1000G)
G=0444 (1710/3854,ALSPAC)
G=0432 (1603/3708,TWINSUK)
chr16:10721373 (GRCh38.p7) (16p13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
61 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.10721373A>G
GRCh37.p13 chr 16NC_000016.9:g.10815230A>G
MTND5P33 pseudogeneNG_046533.1:g.192T>C

Gene: TEKT5, tektin 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TEKT5 transcriptNM_144674.1:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X5XM_011522390.2:c.N/AIntron Variant
TEKT5 transcript variant X1XM_011522383.2:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X2XM_011522385.2:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X4XM_011522389.1:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X3XM_017022955.1:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X7XM_017022956.1:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X8XM_017022957.1:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X9XM_017022958.1:c.N/AGenic Upstream Transcript Variant
TEKT5 transcript variant X6XR_932789.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.663G=0.337
1000GenomesAmericanSub694A=0.690G=0.310
1000GenomesEast AsianSub1008A=0.807G=0.193
1000GenomesEuropeSub1006A=0.570G=0.430
1000GenomesGlobalStudy-wide5008A=0.664G=0.336
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.556G=0.444
The Genome Aggregation DatabaseAfricanSub8704A=0.656G=0.344
The Genome Aggregation DatabaseAmericanSub834A=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1620A=0.793G=0.207
The Genome Aggregation DatabaseEuropeSub18468A=0.578G=0.421
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.616G=0.383
The Genome Aggregation DatabaseOtherSub302A=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.630G=0.369
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.568G=0.432
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
rs47809860.0000942alcoholismpha002891
rs47809860.0000942alcohol dependence20201924

eQTL of rs4780986 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 rs4780986 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 )
chr161083077210831480E06715542
chr161083150810832931E06716278
chr161083878210838848E06723552
chr161083077210831480E06815542
chr161083150810832931E06816278
chr161083077210831480E06915542
chr161083150810832931E06916278
chr161083893910839068E06923709
chr161085510610855167E06939876
chr161085536110855451E06940131
chr161077245710772838E070-42392
chr161083567310836235E07020443
chr161083893910839068E07023709
chr161083935310839503E07024123
chr161083951610840103E07024286
chr161083077210831480E07115542
chr161083150810832931E07116278
chr161083878210838848E07123552
chr161084620710846257E07130977
chr161084629610846346E07131066
chr161084652410846612E07131294
chr161083150810832931E07216278
chr161083077210831480E07315542
chr161083150810832931E07316278
chr161083878210838848E07323552
chr161083951610840103E07324286
chr161083077210831480E07415542
chr161083150810832931E07416278
chr161082180110821853E0816571
chr161082186410821965E0816634
chr161082200810822266E0816778
chr161082227910822374E0817049
chr161082239710822441E0817167
chr161082322510823299E0817995
chr161082330510823383E0818075
chr161082341910823972E0818189
chr161083077210831480E08115542
chr161083150810832931E08116278
chr161083357310834310E08118343
chr161083435410834498E08119124
chr161083455510834648E08119325
chr161083465110834828E08119421
chr161083492110834996E08119691
chr161083516710835227E08119937
chr161083526210835332E08120032
chr161083537110835421E08120141
chr161083567310836235E08120443
chr161083878210838848E08123552
chr161084283910842914E08127609
chr161084293410843863E08127704
chr161084428410844438E08129054
chr161084447110844516E08129241
chr161084454010844596E08129310
chr161084463510844687E08129405
chr161084472710844829E08129497
chr161082322510823299E0827995
chr161082330510823383E0828075
chr161082341910823972E0828189
chr161083077210831480E08215542
chr161083150810832931E08216278
chr161083567310836235E08220443










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr161083704110838632E06721811
chr161083704110838632E06821811
chr161083704110838632E06921811
chr161083704110838632E07021811
chr161083704110838632E07121811
chr161083704110838632E07221811
chr161083704110838632E07321811
chr161083704110838632E07421811
chr161083704110838632E08121811
chr161083704110838632E08221811