rs11739484

Homo sapiens
A>G
SLC22A4 : Intron Variant
LOC553103 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0013 (411/29984,GnomAD)
G=0011 (343/29118,TOPMED)
G=0011 (53/5008,1000G)
G=0020 (77/3854,ALSPAC)
G=0018 (65/3708,TWINSUK)
chr5:132321067 (GRCh38.p7) (5q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
70 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.132321067A>G
GRCh37.p13 chr 5NC_000005.9:g.131656760A>G
SLC22A4 RefSeqGeneNG_012129.1:g.31616A>G

Gene: SLC22A4, solute carrier family 22 member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC22A4 transcriptNM_003059.2:c.N/AIntron Variant
SLC22A4 transcript variant X3XM_006714675.3:c.N/AIntron Variant
SLC22A4 transcript variant X1XM_011543589.2:c.N/AIntron Variant
SLC22A4 transcript variant X2XM_017009776.1:c.N/AIntron Variant

Gene: LOC553103, uncharacterized LOC553103(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MIR3936HG transcriptNR_110997.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.999G=0.001
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=0.998G=0.002
1000GenomesEuropeSub1006A=0.968G=0.032
1000GenomesGlobalStudy-wide5008A=0.989G=0.011
1000GenomesSouth AsianSub978A=0.990G=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.980G=0.020
The Genome Aggregation DatabaseAfricanSub8732A=0.997G=0.003
The Genome Aggregation DatabaseAmericanSub838A=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18490A=0.979G=0.020
The Genome Aggregation DatabaseGlobalStudy-wide29984A=0.986G=0.013
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.988G=0.011
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.982G=0.018
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
rs117394840.00047alcohol dependence20201924

eQTL of rs11739484 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 rs11739484 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 )
chr5131646216131646373E067-10387
chr5131646422131646635E067-10125
chr5131699074131699472E06742314
chr5131699499131699648E06742739
chr5131699917131699986E06743157
chr5131700026131700407E06743266
chr5131628409131628480E068-28280
chr5131638823131639105E068-17655
chr5131646216131646373E068-10387
chr5131646422131646635E068-10125
chr5131699074131699472E06842314
chr5131699499131699648E06842739
chr5131699917131699986E06843157
chr5131700026131700407E06843266
chr5131700438131700517E06843678
chr5131645435131645721E069-11039
chr5131646216131646373E069-10387
chr5131646422131646635E069-10125
chr5131678514131678928E06921754
chr5131699074131699472E06942314
chr5131699499131699648E06942739
chr5131699917131699986E06943157
chr5131700026131700407E06943266
chr5131700438131700517E06943678
chr5131628409131628480E070-28280
chr5131637528131637718E070-19042
chr5131637723131637870E070-18890
chr5131628409131628480E071-28280
chr5131637723131637870E071-18890
chr5131645435131645721E071-11039
chr5131646422131646635E071-10125
chr5131678514131678928E07121754
chr5131699074131699472E07142314
chr5131699499131699648E07142739
chr5131699917131699986E07143157
chr5131700026131700407E07143266
chr5131700438131700517E07143678
chr5131608425131608491E072-48269
chr5131608506131608950E072-47810
chr5131628409131628480E072-28280
chr5131645435131645721E072-11039
chr5131646216131646373E072-10387
chr5131646422131646635E072-10125
chr5131699074131699472E07242314
chr5131699499131699648E07242739
chr5131699917131699986E07243157
chr5131700026131700407E07243266
chr5131700438131700517E07243678
chr5131628409131628480E073-28280
chr5131632049131632133E073-24627
chr5131646216131646373E073-10387
chr5131646422131646635E073-10125
chr5131656083131656218E073-542
chr5131699074131699472E07342314
chr5131699499131699648E07342739
chr5131699917131699986E07343157
chr5131608506131608950E074-47810
chr5131628409131628480E074-28280
chr5131637528131637718E074-19042
chr5131637723131637870E074-18890
chr5131645435131645721E074-11039
chr5131646216131646373E074-10387
chr5131646422131646635E074-10125
chr5131678514131678928E07421754
chr5131699074131699472E07442314
chr5131699499131699648E07442739
chr5131699917131699986E07443157
chr5131700026131700407E07443266
chr5131700438131700517E07443678
chr5131647233131647285E081-9475









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5131628749131630346E067-26414
chr5131704738131705946E06747978
chr5131705991131706458E06749231
chr5131628749131630346E068-26414
chr5131704738131705946E06847978
chr5131705991131706458E06849231
chr5131628749131630346E069-26414
chr5131704738131705946E06947978
chr5131705991131706458E06949231
chr5131628749131630346E070-26414
chr5131704738131705946E07047978
chr5131705991131706458E07049231
chr5131628749131630346E071-26414
chr5131704738131705946E07147978
chr5131705991131706458E07149231
chr5131628749131630346E072-26414
chr5131704738131705946E07247978
chr5131705991131706458E07249231
chr5131628749131630346E073-26414
chr5131704738131705946E07347978
chr5131705991131706458E07349231
chr5131628749131630346E074-26414
chr5131704738131705946E07447978
chr5131705991131706458E07449231
chr5131628749131630346E081-26414
chr5131704738131705946E08147978
chr5131705991131706458E08149231
chr5131628749131630346E082-26414
chr5131704738131705946E08247978
chr5131705991131706458E08249231