rs6578492

Homo sapiens
A>G / A>T
None
Check p-value
SNV (Single Nucleotide Variation)
A==0272 (8100/29724,GnomAD)
A==0238 (6940/29118,TOPMED)
A==0335 (1679/5008,1000G)
A==0279 (1077/3854,ALSPAC)
A==0260 (965/3708,TWINSUK)
chr11:1534014 (GRCh38.p7) (11p15.5)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.1534014A>G
GRCh38.p7 chr 11NC_000011.10:g.1534014A>T
GRCh37.p13 chr 11NC_000011.9:g.1555244A>G
GRCh37.p13 chr 11NC_000011.9:g.1555244A>T
GRCh38.p7 chr 11 alt locus HSCHR11_2_CTG1_1NT_187657.1:g.10541A>G
GRCh38.p7 chr 11 alt locus HSCHR11_2_CTG1_1NT_187657.1:g.10541A>T
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG6NT_187584.1:g.10543G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG6NT_187584.1:g.10543G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.202G=0.798
1000GenomesAmericanSub694A=0.340G=0.660
1000GenomesEast AsianSub1008A=0.607G=0.393
1000GenomesEuropeSub1006A=0.269G=0.731
1000GenomesGlobalStudy-wide5008A=0.335G=0.665
1000GenomesSouth AsianSub978A=0.300G=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.279G=0.721
The Genome Aggregation DatabaseAfricanSub8668A=0.200G=0.800
The Genome Aggregation DatabaseAmericanSub838A=0.360G=0.640
The Genome Aggregation DatabaseEast AsianSub1610A=0.642G=0.358
The Genome Aggregation DatabaseEuropeSub18310A=0.269G=0.730
The Genome Aggregation DatabaseGlobalStudy-wide29724A=0.272G=0.727
The Genome Aggregation DatabaseOtherSub298A=0.320G=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.238G=0.761
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.260G=0.740
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs65784924E-06response to alcohol29460428

eQTL of rs6578492 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G3.2110e-25-37339Cerebellum
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G0.0000e+0-37339Frontal_Cortex_BA9
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G4.5091e-18-37339Hypothalamus
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G0.0000e+0-37339Cortex
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G1.4398e-23-37339Cerebellar_Hemisphere
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G0.0000e+0-37339Caudate_basal_ganglia
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G2.3138e-19-37339Hippocampus
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G8.4341e-21-37339Anterior_cingulate_cortex
Chr11:1555244KRTAP5-AS1ENSG00000233930.3A>G1.0000e-28-37339Nucleus_accumbens_basal_ganglia

meQTL of rs6578492 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 )
chr114014029140140371E0671952
chr114014048440140682E0672145
chr114014072640140945E0672387
chr114015543340155530E06717094
chr114015606940156119E06717730
chr114015635440156423E06718015
chr114015655340156637E06718214
chr114018366440183853E06745325
chr114015068640151163E06812347
chr114015141940151469E06813080
chr114015207440152263E06813735
chr114015431440154368E06815975
chr114015543340155530E06817094
chr114018090240180967E06842563
chr114018366440183853E06845325
chr114018400840184089E06845669
chr114018430840184579E06845969
chr114014048440140682E0692145
chr114014072640140945E0692387
chr114014097640141050E0692637
chr114015052940150604E06912190
chr114015068640151163E06912347
chr114015207440152263E06913735
chr114016223740162365E06923898
chr114018366440183853E06945325
chr114018400840184089E06945669
chr114014029140140371E0711952
chr114014048440140682E0712145
chr114014072640140945E0712387
chr114015052940150604E07112190
chr114015068640151163E07112347
chr114015141940151469E07113080
chr114015207440152263E07113735
chr114016064140160924E07122302
chr114016094940161288E07122610
chr114014048440140682E0722145
chr114015052940150604E07212190
chr114015068640151163E07212347
chr114015207440152263E07213735
chr114015207440152263E07313735
chr114014048440140682E0742145
chr114014072640140945E0742387
chr114014097640141050E0742637
chr114015431440154368E07415975
chr114015457440154637E07416235
chr114015606940156119E07417730
chr114015635440156423E07418015
chr114015655340156637E07418214
chr114015667140156812E07418332
chr114015681640156970E07418477
chr114018366440183853E07445325
chr114018400840184089E07445669
chr114018430840184579E07445969
chr114018459140184721E07446252
chr114016039540160607E08122056
chr114016064140160924E08122302