rs13385982

Homo sapiens
G>T
EML6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0217 (6501/29944,GnomAD)
T=0200 (5828/29116,TOPMED)
T=0154 (773/5008,1000G)
T=0268 (1031/3854,ALSPAC)
T=0263 (977/3708,TWINSUK)
chr2:54876128 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
110 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.54876128G>T
GRCh37.p13 chr 2NC_000002.11:g.55103265G>T

Gene: EML6, echinoderm microtubule associated protein like 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EML6 transcriptNM_001039753.2:c.N/AIntron Variant
EML6 transcript variant X1XM_017004098.1:c.N/AIntron Variant
EML6 transcript variant X2XM_017004099.1:c.N/AIntron Variant
EML6 transcript variant X3XM_017004100.1:c.N/AIntron Variant
EML6 transcript variant X4XM_017004101.1:c.N/AIntron Variant
EML6 transcript variant X5XM_017004102.1:c.N/AIntron Variant
EML6 transcript variant X7XR_001738743.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.843T=0.157
1000GenomesAmericanSub694G=0.810T=0.190
1000GenomesEast AsianSub1008G=0.940T=0.060
1000GenomesEuropeSub1006G=0.732T=0.268
1000GenomesGlobalStudy-wide5008G=0.846T=0.154
1000GenomesSouth AsianSub978G=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.732T=0.268
The Genome Aggregation DatabaseAfricanSub8716G=0.844T=0.156
The Genome Aggregation DatabaseAmericanSub838G=0.810T=0.190
The Genome Aggregation DatabaseEast AsianSub1620G=0.923T=0.077
The Genome Aggregation DatabaseEuropeSub18472G=0.740T=0.259
The Genome Aggregation DatabaseGlobalStudy-wide29944G=0.782T=0.217
The Genome Aggregation DatabaseOtherSub298G=0.790T=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.799T=0.200
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.737T=0.263
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
rs133859820.000207alcohol dependence20201924

eQTL of rs13385982 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 rs13385982 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 )
chr25506513055065613E067-37652
chr25506567755066051E067-37214
chr25506615955066203E067-37062
chr25510711355107476E0673848
chr25510903955109218E0675774
chr25512699855127272E06723733
chr25512735455127481E06724089
chr25513380055133850E06730535
chr25513392955134193E06730664
chr25506513055065613E068-37652
chr25506567755066051E068-37214
chr25506615955066203E068-37062
chr25506671755066980E068-36285
chr25506724255067445E068-35820
chr25506760855067648E068-35617
chr25506783955067883E068-35382
chr25506800055068490E068-34775
chr25512735455127481E06824089
chr25513380055133850E06830535
chr25513392955134193E06830664
chr25506513055065613E069-37652
chr25506567755066051E069-37214
chr25506615955066203E069-37062
chr25506671755066980E069-36285
chr25506800055068490E069-34775
chr25510711355107476E0693848
chr25510903955109218E0695774
chr25512466955124843E06921404
chr25512673455126956E06923469
chr25512699855127272E06923733
chr25512735455127481E06924089
chr25513380055133850E06930535
chr25513392955134193E06930664
chr25506969155069967E070-33298
chr25510711355107476E0703848
chr25510767955107826E0704414
chr25510903955109218E0705774
chr25511917555119281E07015910
chr25506513055065613E071-37652
chr25506567755066051E071-37214
chr25506615955066203E071-37062
chr25506671755066980E071-36285
chr25506800055068490E071-34775
chr25510711355107476E0713848
chr25510767955107826E0714414
chr25510903955109218E0715774
chr25511917555119281E07115910
chr25512381355124165E07120548
chr25512658955126692E07123324
chr25512673455126956E07123469
chr25512699855127272E07123733
chr25512735455127481E07124089
chr25512848155129139E07125216
chr25513380055133850E07130535
chr25513392955134193E07130664
chr25506513055065613E072-37652
chr25506567755066051E072-37214
chr25506615955066203E072-37062
chr25506671755066980E072-36285
chr25506800055068490E072-34775
chr25511917555119281E07215910
chr25512466955124843E07221404
chr25512673455126956E07223469
chr25512699855127272E07223733
chr25512735455127481E07224089
chr25513380055133850E07230535
chr25513392955134193E07230664
chr25512735455127481E07324089
chr25513380055133850E07330535
chr25513392955134193E07330664
chr25506513055065613E074-37652
chr25506567755066051E074-37214
chr25506615955066203E074-37062
chr25506671755066980E074-36285
chr25510711355107476E0743848
chr25512673455126956E07423469
chr25512699855127272E07423733
chr25512735455127481E07424089
chr25513380055133850E07430535
chr25513392955134193E07430664
chr25506513055065613E081-37652
chr25506567755066051E081-37214
chr25507149955071577E081-31688
chr25509869255098779E081-4486
chr25509902255099137E081-4128
chr25509965555100222E081-3043
chr25510048255100646E081-2619
chr25510711355107476E0813848
chr25512466955124843E08121404
chr25512567855125878E08122413
chr25512605555126268E08122790
chr25512658955126692E08123324
chr25512673455126956E08123469
chr25512699855127272E08123733
chr25513251355132587E08129248
chr25513270355132933E08129438
chr25513297255133046E08129707
chr25513311455133164E08129849
chr25513380055133850E08130535
chr25513392955134193E08130664
chr25509965555100222E082-3043
chr25510711355107476E0823848
chr25512567855125878E08222413
chr25512605555126268E08222790
chr25512658955126692E08223324
chr25512673455126956E08223469
chr25512699855127272E08223733
chr25512735455127481E08224089
chr25513380055133850E08230535
chr25513392955134193E08230664