rs10077254

Homo sapiens
C>T
LOC285593 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0320 (9589/29942,GnomAD)
T=0291 (8493/29118,TOPMED)
T=0270 (1350/5008,1000G)
T=0346 (1335/3854,ALSPAC)
T=0335 (1243/3708,TWINSUK)
chr5:173579444 (GRCh38.p7) (5q35.2)
AD
GWASdb2
1   publication(s)
See rs on genome
174 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.173579444C>T
GRCh37.p13 chr 5NC_000005.9:g.173006447C>T

Gene: LOC285593, uncharacterized LOC285593(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC285593 transcript variant 1NR_027108.2:n.N/AUpstream Transcript Variant
LOC285593 transcript variant 2NR_027109.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.766T=0.234
1000GenomesAmericanSub694C=0.620T=0.380
1000GenomesEast AsianSub1008C=0.839T=0.161
1000GenomesEuropeSub1006C=0.666T=0.334
1000GenomesGlobalStudy-wide5008C=0.730T=0.270
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.654T=0.346
The Genome Aggregation DatabaseAfricanSub8708C=0.764T=0.236
The Genome Aggregation DatabaseAmericanSub838C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1618C=0.874T=0.126
The Genome Aggregation DatabaseEuropeSub18476C=0.626T=0.373
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.679T=0.320
The Genome Aggregation DatabaseOtherSub302C=0.730T=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.708T=0.291
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.665T=0.335
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs100772540.000558alcohol dependence24277619

eQTL of rs10077254 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 rs10077254 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 )
chr5172981014172981262E067-25185
chr5172982396172982694E067-23753
chr5172983515172983686E067-22761
chr5172983799172983970E067-22477
chr5172984279172984501E067-21946
chr5172984641172984782E067-21665
chr5172998764172998845E067-7602
chr5172999165172999351E067-7096
chr5172999609172999744E067-6703
chr5172999989173000457E067-5990
chr5173031965173032015E06725518
chr5173039557173039637E06733110
chr5173044366173044492E06737919
chr5173045550173045651E06739103
chr5173045720173045833E06739273
chr5173045886173045975E06739439
chr5173046017173046349E06739570
chr5173046385173046476E06739938
chr5173046654173046747E06740207
chr5173052411173052545E06745964
chr5173052614173052959E06746167
chr5173053057173053228E06746610
chr5173053232173053329E06746785
chr5173053566173053648E06747119
chr5173053836173053903E06747389
chr5173054837173055697E06748390
chr5173055742173055811E06749295
chr5172981014172981262E068-25185
chr5172982396172982694E068-23753
chr5172983515172983686E068-22761
chr5172983799172983970E068-22477
chr5172984279172984501E068-21946
chr5172984641172984782E068-21665
chr5172999609172999744E068-6703
chr5172999989173000457E068-5990
chr5173025684173025748E06819237
chr5173025809173025921E06819362
chr5173025975173026222E06819528
chr5173031148173031280E06824701
chr5173031965173032015E06825518
chr5173039557173039637E06833110
chr5173040111173040252E06833664
chr5173040332173040690E06833885
chr5173044366173044492E06837919
chr5173051920173052027E06845473
chr5173052411173052545E06845964
chr5173052614173052959E06846167
chr5173053057173053228E06846610
chr5173053232173053329E06846785
chr5173053566173053648E06847119
chr5173053836173053903E06847389
chr5173054837173055697E06848390
chr5173055742173055811E06849295
chr5173056112173056200E06849665
chr5172981014172981262E069-25185
chr5172982396172982694E069-23753
chr5172983515172983686E069-22761
chr5172983799172983970E069-22477
chr5173017532173017637E06911085
chr5173017697173017747E06911250
chr5173017750173018316E06911303
chr5173018332173018549E06911885
chr5173029541173029766E06923094
chr5173031148173031280E06924701
chr5173040111173040252E06933664
chr5173040332173040690E06933885
chr5173044366173044492E06937919
chr5173045886173045975E06939439
chr5173046017173046349E06939570
chr5173052411173052545E06945964
chr5173052614173052959E06946167
chr5173053566173053648E06947119
chr5173054837173055697E06948390
chr5173055742173055811E06949295
chr5173056112173056200E06949665
chr5172981014172981262E070-25185
chr5172982396172982694E070-23753
chr5172983515172983686E070-22761
chr5172983799172983970E070-22477
chr5172984279172984501E070-21946
chr5172984641172984782E070-21665
chr5173044366173044492E07037919
chr5173052614173052959E07046167
chr5173053057173053228E07046610
chr5173054837173055697E07048390
chr5172981014172981262E071-25185
chr5172982396172982694E071-23753
chr5172983515172983686E071-22761
chr5172983799172983970E071-22477
chr5172984279172984501E071-21946
chr5172984641172984782E071-21665
chr5172999609172999744E071-6703
chr5173017750173018316E07111303
chr5173018332173018549E07111885
chr5173025809173025921E07119362
chr5173025975173026222E07119528
chr5173031148173031280E07124701
chr5173044617173044823E07138170
chr5173046017173046349E07139570
chr5173046385173046476E07139938
chr5173052411173052545E07145964
chr5173052614173052959E07146167
chr5173053232173053329E07146785
chr5173053566173053648E07147119
chr5173053836173053903E07147389
chr5173054837173055697E07148390
chr5173055742173055811E07149295
chr5173056112173056200E07149665
chr5172981014172981262E072-25185
chr5172982396172982694E072-23753
chr5172983515172983686E072-22761
chr5172983799172983970E072-22477
chr5172984279172984501E072-21946
chr5172984641172984782E072-21665
chr5172999609172999744E072-6703
chr5172999989173000457E072-5990
chr5173000549173000594E072-5853
chr5173017750173018316E07211303
chr5173018332173018549E07211885
chr5173025809173025921E07219362
chr5173031148173031280E07224701
chr5173044366173044492E07237919
chr5173044617173044823E07238170
chr5173051920173052027E07245473
chr5173052411173052545E07245964
chr5173053232173053329E07246785
chr5173053566173053648E07247119
chr5173054837173055697E07248390
chr5173055742173055811E07249295
chr5172981014172981262E073-25185
chr5172983515172983686E073-22761
chr5172983799172983970E073-22477
chr5173025684173025748E07319237
chr5173025809173025921E07319362
chr5173025975173026222E07319528
chr5173044366173044492E07337919
chr5173052411173052545E07345964
chr5173052614173052959E07346167
chr5173053057173053228E07346610
chr5173053232173053329E07346785
chr5173053566173053648E07347119
chr5173053836173053903E07347389
chr5173054837173055697E07348390
chr5173055742173055811E07349295
chr5173056112173056200E07349665
chr5172981014172981262E074-25185
chr5172982396172982694E074-23753
chr5172983515172983686E074-22761
chr5172983799172983970E074-22477
chr5172984279172984501E074-21946
chr5172984641172984782E074-21665
chr5172999609172999744E074-6703
chr5173029541173029766E07423094
chr5173031148173031280E07424701
chr5173044366173044492E07437919
chr5173052614173052959E07446167
chr5173053057173053228E07446610
chr5173053232173053329E07446785
chr5173053566173053648E07447119
chr5173053836173053903E07447389
chr5173054837173055697E07448390
chr5173055742173055811E07449295
chr5173056112173056200E07449665
chr5172982396172982694E081-23753
chr5173039557173039637E08133110
chr5173039831173039916E08133384
chr5173040111173040252E08133664
chr5173040332173040690E08133885
chr5173054837173055697E08148390
chr5173055742173055811E08149295
chr5173056112173056200E08149665
chr5173040332173040690E08233885
chr5173052614173052959E08246167
chr5173054837173055697E08248390










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5173042799173044150E06736352
chr5173042799173044150E06836352
chr5173042799173044150E06936352
chr5173042799173044150E07036352
chr5173042799173044150E07136352
chr5173042799173044150E07236352
chr5173042799173044150E07336352
chr5173042799173044150E07436352
chr5173042799173044150E08236352