rs4129295

Homo sapiens
A>C
LOC105375711 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0357 (10691/29872,GnomAD)
A==0390 (11377/29118,TOPMED)
A==0461 (2308/5008,1000G)
A==0228 (878/3854,ALSPAC)
A==0246 (914/3708,TWINSUK)
chr8:116463359 (GRCh38.p7) (8q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.116463359A>C
GRCh37.p13 chr 8NC_000008.10:g.117475597A>C

Gene: LOC105375711, uncharacterized LOC105375711(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375711 transcript variant X1XR_928550.2:n.N/AIntron Variant
LOC105375711 transcript variant X2XR_928551.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.576C=0.424
1000GenomesAmericanSub694A=0.370C=0.630
1000GenomesEast AsianSub1008A=0.492C=0.508
1000GenomesEuropeSub1006A=0.258C=0.742
1000GenomesGlobalStudy-wide5008A=0.461C=0.539
1000GenomesSouth AsianSub978A=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.228C=0.772
The Genome Aggregation DatabaseAfricanSub8666A=0.541C=0.459
The Genome Aggregation DatabaseAmericanSub836A=0.380C=0.620
The Genome Aggregation DatabaseEast AsianSub1600A=0.482C=0.517
The Genome Aggregation DatabaseEuropeSub18468A=0.259C=0.740
The Genome Aggregation DatabaseGlobalStudy-wide29872A=0.357C=0.642
The Genome Aggregation DatabaseOtherSub302A=0.380C=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.390C=0.609
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.246C=0.754
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs41292953.92E-06alcohol withdrawal symptoms22072270

eQTL of rs4129295 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 rs4129295 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 )
chr8117456404117457624E068-17973
chr8117483524117483641E0697927
chr8117483709117483871E0698112
chr8117485521117486198E0699924
chr8117483365117483523E0707768
chr8117483524117483641E0707927
chr8117483709117483871E0708112
chr8117490565117490628E07014968
chr8117490706117490912E07015109
chr8117490938117491341E07015341
chr8117491372117491628E07015775
chr8117491687117491909E07016090
chr8117491940117492022E07016343
chr8117456404117457624E071-17973
chr8117457707117457997E071-17600
chr8117483365117483523E0717768
chr8117483524117483641E0717927
chr8117483709117483871E0718112
chr8117490565117490628E07114968
chr8117490706117490912E07115109
chr8117456404117457624E074-17973
chr8117457707117457997E074-17600
chr8117483365117483523E0747768
chr8117483524117483641E0747927
chr8117483709117483871E0818112
chr8117488619117488732E08113022
chr8117489829117490350E08114232
chr8117490565117490628E08114968
chr8117490706117490912E08115109
chr8117490938117491341E08115341
chr8117491372117491628E08115775
chr8117485521117486198E0829924
chr8117490565117490628E08214968
chr8117490706117490912E08215109
chr8117490938117491341E08215341







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8117483927117485499E0678330
chr8117466534117467164E068-8433
chr8117483927117485499E0688330
chr8117466534117467164E069-8433
chr8117483927117485499E0698330
chr8117466534117467164E070-8433
chr8117483927117485499E0708330
chr8117466534117467164E071-8433
chr8117483927117485499E0718330
chr8117466534117467164E072-8433
chr8117483927117485499E0728330
chr8117483927117485499E0738330
chr8117466534117467164E074-8433
chr8117483927117485499E0748330