rs2836364

Homo sapiens
C>T
ERG : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0212 (6365/29964,GnomAD)
T=0179 (5237/29118,TOPMED)
T=0215 (1078/5008,1000G)
T=0254 (980/3854,ALSPAC)
T=0255 (944/3708,TWINSUK)
chr21:38395952 (GRCh38.p7) (21q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.38395952C>T
GRCh37.p13 chr 21NC_000021.8:g.39767874C>T
ERG RefSeqGeneNG_029732.1:g.270831G>A

Gene: ERG, v-ets avian erythroblastosis virus E26 oncogene homolog(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ERG transcript variant 3NM_001136154.1:c.N/AIntron Variant
ERG transcript variant 4NM_001136155.1:c.N/AIntron Variant
ERG transcript variant 5NM_001243428.1:c.N/AIntron Variant
ERG transcript variant 6NM_001243429.1:c.N/AIntron Variant
ERG transcript variant 7NM_001243432.2:c.N/AIntron Variant
ERG transcript variant 2NM_004449.4:c.N/AIntron Variant
ERG transcript variant 1NM_182918.3:c.N/AIntron Variant
ERG transcript variant 8NM_001291391.1:c.N/AGenic Downstream Transcript Variant
ERG transcript variant 9NR_111949.1:n.N/AGenic Downstream Transcript Variant
ERG transcript variant X3XM_011529486.2:c.N/AIntron Variant
ERG transcript variant X5XM_011529487.2:c.N/AIntron Variant
ERG transcript variant X1XM_017028287.1:c.N/AIntron Variant
ERG transcript variant X2XM_017028288.1:c.N/AIntron Variant
ERG transcript variant X4XM_017028289.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.958T=0.042
1000GenomesAmericanSub694C=0.700T=0.300
1000GenomesEast AsianSub1008C=0.803T=0.197
1000GenomesEuropeSub1006C=0.753T=0.247
1000GenomesGlobalStudy-wide5008C=0.785T=0.215
1000GenomesSouth AsianSub978C=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.746T=0.254
The Genome Aggregation DatabaseAfricanSub8728C=0.917T=0.083
The Genome Aggregation DatabaseAmericanSub838C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1618C=0.769T=0.231
The Genome Aggregation DatabaseEuropeSub18478C=0.730T=0.269
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.787T=0.212
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.820T=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.745T=0.255
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs28363643.36E-05alcohol dependence19581569

eQTL of rs2836364 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 rs2836364 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 )
chr213978563739785739E07117763
chr213978601539786179E07118141
chr213980649239806621E07338618
chr213980663539806731E07338761
chr213980673439807927E07338860
chr213975734939757680E081-10194
chr213975768839758102E081-9772
chr213976156439761689E081-6185
chr213976193239762117E081-5757
chr213976214339762242E081-5632
chr213979619139796746E08128317
chr213981580039815909E08147926
chr213981595239816025E08148078
chr213979619139796746E08228317