rs2097983

Homo sapiens
A>C
LOC105372476 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0160 (4773/29740,GnomAD)
C=0193 (5647/29118,TOPMED)
C=0177 (885/5008,1000G)
C=0124 (477/3854,ALSPAC)
C=0130 (481/3708,TWINSUK)
chr19:57269727 (GRCh38.p7) (19q13.43)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
40 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.57269727A>C
GRCh37.p13 chr 19NC_000019.9:g.57781095A>C

Gene: LOC105372476, uncharacterized LOC105372476(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZNF460-AS1 transcript variant 1NR_136528.1:n.N/AIntron Variant
ZNF460-AS1 transcript variant 2NR_136529.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.748C=0.252
1000GenomesAmericanSub694A=0.830C=0.170
1000GenomesEast AsianSub1008A=0.900C=0.100
1000GenomesEuropeSub1006A=0.847C=0.153
1000GenomesGlobalStudy-wide5008A=0.823C=0.177
1000GenomesSouth AsianSub978A=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.876C=0.124
The Genome Aggregation DatabaseAfricanSub8648A=0.762C=0.238
The Genome Aggregation DatabaseAmericanSub832A=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1608A=0.904C=0.096
The Genome Aggregation DatabaseEuropeSub18350A=0.870C=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29740A=0.839C=0.160
The Genome Aggregation DatabaseOtherSub302A=0.770C=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.806C=0.193
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.870C=0.130
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs20979830.000816alcohol dependence21314694

eQTL of rs2097983 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 rs2097983 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 )
chr195779344157794225E06712346
chr195779423257794319E06713137
chr195779442657794510E06713331
chr195779459957794919E06713504
chr195779505757795227E06713962
chr195779532657795399E06714231
chr195779548957795540E06714394
chr195779571157795821E06714616
chr195779590057796082E06714805
chr195775367157753798E068-27297
chr195779423257794319E06813137
chr195779442657794510E06813331
chr195779459957794919E06813504
chr195779505757795227E06813962
chr195775367157753798E069-27297
chr195779344157794225E06912346
chr195779505757795227E06913962
chr195779532657795399E06914231
chr195779548957795540E06914394
chr195775367157753798E070-27297
chr195779423257794319E07013137
chr195779344157794225E07112346
chr195779423257794319E07113137
chr195779442657794510E07113331
chr195779459957794919E07113504
chr195779505757795227E07113962
chr195779532657795399E07114231
chr195779548957795540E07114394
chr195779571157795821E07114616
chr195779590057796082E07114805
chr195779638857796644E07115293
chr195781313657814762E07132041
chr195779423257794319E07213137
chr195779442657794510E07213331
chr195779459957794919E07213504
chr195775446557754545E073-26550
chr195779442657794510E07313331
chr195779459957794919E07313504
chr195779505757795227E07313962
chr195779532657795399E07314231
chr195779548957795540E07314394
chr195779571157795821E07314616
chr195779590057796082E07314805
chr195779638857796644E07315293
chr195779344157794225E07412346
chr195779423257794319E07413137
chr195779442657794510E07413331
chr195779459957794919E07413504
chr195779505757795227E07413962
chr195779532657795399E07414231
chr195779548957795540E07414394
chr195779571157795821E07414616
chr195779590057796082E07414805
chr195775367157753798E081-27297
chr195779344157794225E08112346
chr195775367157753798E082-27297
chr195779344157794225E08212346
chr195779423257794319E08213137










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr195775131557752934E067-28161
chr195779055557792900E0679460
chr195782885657828910E06747761
chr195782891157829235E06747816
chr195774192957742013E068-39082
chr195774206957742211E068-38884
chr195774225857742448E068-38647
chr195775131557752934E068-28161
chr195779055557792900E0689460
chr195782885657828910E06847761
chr195782891157829235E06847816
chr195775131557752934E069-28161
chr195779055557792900E0699460
chr195774192957742013E070-39082
chr195774206957742211E070-38884
chr195774225857742448E070-38647
chr195775131557752934E070-28161
chr195779055557792900E0709460
chr195775131557752934E071-28161
chr195779055557792900E0719460
chr195782885657828910E07147761
chr195782891157829235E07147816
chr195774206957742211E072-38884
chr195774225857742448E072-38647
chr195775131557752934E072-28161
chr195779055557792900E0729460
chr195774206957742211E073-38884
chr195775131557752934E073-28161
chr195779055557792900E0739460
chr195782885657828910E07347761
chr195782891157829235E07347816
chr195775131557752934E074-28161
chr195779055557792900E0749460
chr195775131557752934E081-28161
chr195779055557792900E0819460
chr195774192957742013E082-39082
chr195774206957742211E082-38884
chr195774225857742448E082-38647
chr195775131557752934E082-28161
chr195779055557792900E0829460