rs11047179

Homo sapiens
C>T
SOX5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0042 (1263/29984,GnomAD)
T=0035 (1037/29118,TOPMED)
T=0114 (569/5008,1000G)
T=0005 (18/3854,ALSPAC)
T=0007 (25/3708,TWINSUK)
chr12:23969997 (GRCh38.p7) (12p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
48 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.23969997C>T
GRCh37.p13 chr 12NC_000012.11:g.24122931C>T
SOX5 RefSeqGeneNG_029612.1:g.597450G>A

Gene: SOX5, SRY-box 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SOX5 transcript variant 4NM_001261414.1:c.N/AIntron Variant
SOX5 transcript variant 2NM_152989.3:c.N/AIntron Variant
SOX5 transcript variant 5NM_001261415.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant 1NM_006940.4:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant 3NM_178010.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X13XM_011520834.2:c.N/AIntron Variant
SOX5 transcript variant X12XM_011520835.2:c.N/AIntron Variant
SOX5 transcript variant X5XM_017019890.1:c.N/AIntron Variant
SOX5 transcript variant X6XM_017019891.1:c.N/AIntron Variant
SOX5 transcript variant X8XM_017019892.1:c.N/AIntron Variant
SOX5 transcript variant X19XM_017019893.1:c.N/AIntron Variant
SOX5 transcript variant X20XM_017019894.1:c.N/AIntron Variant
SOX5 transcript variant X23XM_017019896.1:c.N/AIntron Variant
SOX5 transcript variant X27XM_017019897.1:c.N/AIntron Variant
SOX5 transcript variant X31XM_017019898.1:c.N/AIntron Variant
SOX5 transcript variant X32XM_017019899.1:c.N/AIntron Variant
SOX5 transcript variant X16XM_011520831.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X3XM_011520832.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X4XM_011520833.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X22XM_011520837.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X26XM_011520838.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X37XM_011520842.2:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X1XM_017019888.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X2XM_017019889.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X21XM_017019895.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X33XM_017019900.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X34XM_017019901.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X35XM_017019902.1:c.N/AGenic Upstream Transcript Variant
SOX5 transcript variant X36XM_017019903.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.974T=0.026
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.626T=0.374
1000GenomesEuropeSub1006C=0.996T=0.004
1000GenomesGlobalStudy-wide5008C=0.886T=0.114
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.995T=0.005
The Genome Aggregation DatabaseAfricanSub8730C=0.981T=0.019
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1616C=0.611T=0.389
The Genome Aggregation DatabaseEuropeSub18498C=0.981T=0.018
The Genome Aggregation DatabaseGlobalStudy-wide29984C=0.957T=0.042
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.964T=0.035
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.993T=0.007
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs110471790.000424alcohol dependence24277619

eQTL of rs11047179 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 rs11047179 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 )
chr122416866024168923E06745729
chr122416728524167817E06844354
chr122407532924075379E069-47552
chr122416783624168598E06944905
chr122416866024168923E06945729
chr122408229024082361E070-40570
chr122408842724088479E070-34452
chr122416718724167271E07044256
chr122416728524167817E07044354
chr122417017424170233E07047243
chr122416728524167817E07144354
chr122416783624168598E07144905
chr122416866024168923E07145729
chr122416783624168598E07244905
chr122416866024168923E07245729
chr122416728524167817E07444354
chr122416783624168598E07444905
chr122416866024168923E07445729
chr122407349424073552E081-49379
chr122408822124088271E081-34660
chr122408842724088479E081-34452
chr122408891624088964E081-33967
chr122407532924075379E082-47552
chr122407645024076490E082-46441
chr122407666724076717E082-46214
chr122408842724088479E082-34452
chr122416783624168598E08244905
chr122416866024168923E08245729









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr122407435424074581E067-48350
chr122407461124074813E067-48118
chr122407488024075044E067-47887
chr122410114824101933E067-20998
chr122410198424104427E067-18504
chr122407435424074581E068-48350
chr122407461124074813E068-48118
chr122410114824101933E068-20998
chr122410198424104427E068-18504
chr122409652724096850E069-26081
chr122410114824101933E069-20998
chr122410198424104427E069-18504
chr122407461124074813E070-48118
chr122407488024075044E070-47887
chr122407511824075193E070-47738
chr122409652724096850E070-26081
chr122410085324101024E070-21907
chr122410114824101933E070-20998
chr122410198424104427E070-18504
chr122407435424074581E071-48350
chr122407461124074813E071-48118
chr122407488024075044E071-47887
chr122407511824075193E071-47738
chr122410114824101933E071-20998
chr122410198424104427E071-18504
chr122407435424074581E072-48350
chr122407461124074813E072-48118
chr122410114824101933E072-20998
chr122410198424104427E072-18504
chr122409652724096850E073-26081
chr122410114824101933E073-20998
chr122410198424104427E073-18504
chr122410114824101933E074-20998
chr122410198424104427E074-18504
chr122407461124074813E081-48118
chr122409652724096850E081-26081
chr122410085324101024E081-21907
chr122410114824101933E081-20998
chr122410198424104427E081-18504
chr122407435424074581E082-48350
chr122407461124074813E082-48118
chr122407488024075044E082-47887
chr122407511824075193E082-47738
chr122408990724090027E082-32904
chr122409652724096850E082-26081
chr122410085324101024E082-21907
chr122410114824101933E082-20998
chr122410198424104427E082-18504