rs35004

Homo sapiens
C>A / C>T
FAM134B : 2KB Upstream Variant
LOC101929524 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0406 (11540/28382,GnomAD)
A=0385 (1930/5008,1000G)
chr5:16617794 (GRCh38.p7) (5p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.16617794C>A
GRCh38.p7 chr 5NC_000005.10:g.16617794C>T
GRCh37.p13 chr 5NC_000005.9:g.16617903C>A
GRCh37.p13 chr 5NC_000005.9:g.16617903C>T
RETREG1 RefSeqGene LRG_363
RETREG1 RefSeqGene LRG_363

Gene: FAM134B, family with sequence similarity 134 member B(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
RETREG1 transcript variant 1NM_001034850.2:c.N/AUpstream Transcript Variant
RETREG1 transcript variant 2NM_019000.4:c.N/AN/A
FAM134B transcript variant X1XM_011514053.2:c.N/AUpstream Transcript Variant
RETREG1 transcript variant X2XM_011514054.2:c.N/AN/A
FAM134B transcript variant X3XM_011514055.2:c.N/AN/A

Gene: LOC101929524, uncharacterized LOC101929524(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101929524 transcriptNR_109946.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.731A=0.269
1000GenomesAmericanSub694C=0.690A=0.310
1000GenomesEast AsianSub1008C=0.582A=0.418
1000GenomesEuropeSub1006C=0.498A=0.502
1000GenomesGlobalStudy-wide5008C=0.615A=0.385
1000GenomesSouth AsianSub978C=0.550A=0.450
The Genome Aggregation DatabaseAfricanSub8400C=0.731A=0.269
The Genome Aggregation DatabaseAmericanSub820C=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1512C=0.603A=0.397
The Genome Aggregation DatabaseEuropeSub17360C=0.519A=0.480
The Genome Aggregation DatabaseGlobalStudy-wide28382C=0.593A=0.406
The Genome Aggregation DatabaseOtherSub290C=0.560A=0.440
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
rs350040.0008alcohol dependence20201924

eQTL of rs35004 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 rs35004 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 )
chr572091147209326E070-40414
chr572093827209554E070-40186
chr572095767209705E070-40035
chr572203117220694E081-29046
chr572211127221209E081-28531
chr572212467221510E081-28230