rs9436444

Homo sapiens
G>A
ELAVL4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0264 (7901/29870,GnomAD)
A=0278 (8102/29118,TOPMED)
A=0298 (1490/5008,1000G)
A=0226 (871/3854,ALSPAC)
A=0241 (894/3708,TWINSUK)
chr1:50124126 (GRCh38.p7) (1p33)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.50124126G>A
GRCh37.p13 chr 1NC_000001.10:g.50589798G>A

Gene: ELAVL4, ELAV like neuron-specific RNA binding protein 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ELAVL4 transcript variant 2NM_001144774.2:c.N/AIntron Variant
ELAVL4 transcript variant 3NM_001144775.2:c.N/AIntron Variant
ELAVL4 transcript variant 4NM_001144776.2:c.N/AIntron Variant
ELAVL4 transcript variant 5NM_001144777.2:c.N/AIntron Variant
ELAVL4 transcript variant 6NM_001294348.1:c.N/AIntron Variant
ELAVL4 transcript variant 7NM_001324208.1:c.N/AIntron Variant
ELAVL4 transcript variant 8NM_001324209.1:c.N/AIntron Variant
ELAVL4 transcript variant 13NM_001324212.1:c.N/AIntron Variant
ELAVL4 transcript variant 9NM_001324213.1:c.N/AIntron Variant
ELAVL4 transcript variant 14NM_001324214.1:c.N/AIntron Variant
ELAVL4 transcript variant 10NM_001324215.1:c.N/AIntron Variant
ELAVL4 transcript variant 11NM_001324216.1:c.N/AIntron Variant
ELAVL4 transcript variant 12NM_001324217.1:c.N/AIntron Variant
ELAVL4 transcript variant 1NM_021952.4:c.N/AIntron Variant
ELAVL4 transcript variant 15NR_136725.1:n.N/AIntron Variant
ELAVL4 transcript variant X2XM_006710411.3:c.N/AIntron Variant
ELAVL4 transcript variant X1XM_011540889.2:c.N/AIntron Variant
ELAVL4 transcript variant X3XM_011540890.2:c.N/AIntron Variant
ELAVL4 transcript variant X4XM_011540893.2:c.N/AIntron Variant
ELAVL4 transcript variant X7XM_011540894.2:c.N/AIntron Variant
ELAVL4 transcript variant X6XM_011540895.2:c.N/AIntron Variant
ELAVL4 transcript variant X5XM_017000538.1:c.N/AIntron Variant
ELAVL4 transcript variant X10XM_017000539.1:c.N/AIntron Variant
ELAVL4 transcript variant X13XM_017000540.1:c.N/AIntron Variant
ELAVL4 transcript variant X14XM_017000541.1:c.N/AIntron Variant
ELAVL4 transcript variant X15XM_017000542.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.642A=0.358
1000GenomesAmericanSub694G=0.700A=0.300
1000GenomesEast AsianSub1008G=0.652A=0.348
1000GenomesEuropeSub1006G=0.811A=0.189
1000GenomesGlobalStudy-wide5008G=0.702A=0.298
1000GenomesSouth AsianSub978G=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.774A=0.226
The Genome Aggregation DatabaseAfricanSub8702G=0.666A=0.334
The Genome Aggregation DatabaseAmericanSub834G=0.770A=0.230
The Genome Aggregation DatabaseEast AsianSub1576G=0.652A=0.348
The Genome Aggregation DatabaseEuropeSub18456G=0.771A=0.228
The Genome Aggregation DatabaseGlobalStudy-wide29870G=0.735A=0.264
The Genome Aggregation DatabaseOtherSub302G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.721A=0.278
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.759A=0.241
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
rs94364440.00099alcohol dependence20201924

eQTL of rs9436444 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 rs9436444 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 )
chr15056956150569800E070-19998
chr15058212050582176E070-7622
chr15058340650583490E070-6308
chr15059191850592026E0702120
chr15059498750595107E0705189
chr15059628650596336E0706488
chr15060152250601656E07011724
chr15060445350604503E07014655
chr15060655750606786E07016759
chr15060708950607317E07017291
chr15062193550622189E07232137
chr15058212050582176E073-7622
chr15058340650583490E073-6308
chr15056956150569800E081-19998
chr15057443750574617E081-15181
chr15058212050582176E081-7622
chr15058340650583490E081-6308
chr15060655750606786E08116759
chr15060708950607317E08117291
chr15056956150569800E082-19998
chr15058212050582176E082-7622
chr15058340650583490E082-6308
chr15060655750606786E08216759
chr15060708950607317E08217291





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr15057616750576363E067-13435
chr15057645550576669E067-13129
chr15057673550576971E067-12827
chr15057726050577447E067-12351
chr15057747250577522E067-12276
chr15057756250577631E067-12167
chr15057616750576363E068-13435
chr15057616750576363E069-13435
chr15057645550576669E069-13129
chr15057673550576971E069-12827
chr15057726050577447E069-12351
chr15057747250577522E069-12276
chr15057756250577631E069-12167
chr15057616750576363E070-13435
chr15057645550576669E070-13129
chr15057673550576971E070-12827
chr15057726050577447E070-12351
chr15057747250577522E070-12276
chr15057756250577631E070-12167
chr15057810950578159E070-11639
chr15059791750598062E0708119
chr15057616750576363E071-13435
chr15057645550576669E071-13129
chr15057673550576971E071-12827
chr15057726050577447E071-12351
chr15057747250577522E071-12276
chr15057756250577631E071-12167
chr15057616750576363E072-13435
chr15057645550576669E072-13129
chr15057673550576971E072-12827
chr15057726050577447E072-12351
chr15057747250577522E072-12276
chr15057756250577631E072-12167
chr15057810950578159E072-11639
chr15057616750576363E073-13435
chr15057645550576669E073-13129
chr15057673550576971E073-12827
chr15057726050577447E073-12351
chr15057747250577522E073-12276
chr15057756250577631E073-12167
chr15057616750576363E074-13435
chr15057616750576363E081-13435
chr15057645550576669E081-13129
chr15057673550576971E081-12827
chr15057726050577447E081-12351
chr15057747250577522E081-12276
chr15057756250577631E081-12167
chr15057810950578159E081-11639
chr15057616750576363E082-13435
chr15057645550576669E082-13129
chr15057673550576971E082-12827
chr15057726050577447E082-12351
chr15057747250577522E082-12276
chr15057756250577631E082-12167
chr15057810950578159E082-11639