rs11603071

Homo sapiens
T>C
SOX6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0274 (8207/29874,GnomAD)
C=0220 (6407/29118,TOPMED)
C=0181 (908/5008,1000G)
C=0380 (1465/3854,ALSPAC)
C=0382 (1418/3708,TWINSUK)
chr11:16386702 (GRCh38.p7) (11p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
73 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.16386702T>C
GRCh37.p13 chr 11NC_000011.9:g.16408248T>C
SOX6 RefSeqGeneNG_012881.1:g.94688A>G

Gene: SOX6, SRY-box 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SOX6 transcript variant 3NM_001145811.1:c.N/AIntron Variant
SOX6 transcript variant 4NM_001145819.1:c.N/AIntron Variant
SOX6 transcript variant 1NM_017508.2:c.N/AIntron Variant
SOX6 transcript variant 2NM_033326.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.976C=0.024
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.897C=0.103
1000GenomesEuropeSub1006T=0.609C=0.391
1000GenomesGlobalStudy-wide5008T=0.819C=0.181
1000GenomesSouth AsianSub978T=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.620C=0.380
The Genome Aggregation DatabaseAfricanSub8718T=0.932C=0.068
The Genome Aggregation DatabaseAmericanSub834T=0.780C=0.220
The Genome Aggregation DatabaseEast AsianSub1612T=0.893C=0.107
The Genome Aggregation DatabaseEuropeSub18410T=0.612C=0.387
The Genome Aggregation DatabaseGlobalStudy-wide29874T=0.725C=0.274
The Genome Aggregation DatabaseOtherSub300T=0.550C=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.780C=0.220
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.618C=0.382
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
rs116030710.00033alcohol dependence20201924

eQTL of rs11603071 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 rs11603071 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 )
chr111637750016377554E067-30694
chr111637761816377865E067-30383
chr111637787216379279E067-28969
chr111642420716424321E06715959
chr111642434416425205E06716096
chr111642521016425392E06716962
chr111642553016425656E06717282
chr111637937916379650E068-28598
chr111638665616386706E068-21542
chr111638674616388226E068-20022
chr111642521016425392E06816962
chr111642698316427265E06818735
chr111637750016377554E069-30694
chr111637761816377865E069-30383
chr111637787216379279E069-28969
chr111636830216368858E070-39390
chr111637513416375359E070-32889
chr111637787216379279E070-28969
chr111637937916379650E070-28598
chr111638665616386706E070-21542
chr111638674616388226E070-20022
chr111641462116414720E0706373
chr111641503716415153E0706789
chr111642521016425392E07016962
chr111642632716426377E07018079
chr111642638116426605E07018133
chr111642661516426698E07018367
chr111642688616426963E07018638
chr111642698316427265E07018735
chr111643871216439091E07030464
chr111637787216379279E071-28969
chr111642393316424171E07115685
chr111642420716424321E07115959
chr111642521016425392E07116962
chr111642553016425656E07117282
chr111642590116425965E07117653
chr111642612016426180E07117872
chr111642632716426377E07118079
chr111642638116426605E07118133
chr111642661516426698E07118367
chr111642688616426963E07118638
chr111642698316427265E07118735
chr111637750016377554E072-30694
chr111637761816377865E072-30383
chr111637787216379279E072-28969
chr111642521016425392E07216962
chr111642553016425656E07217282
chr111642688616426963E07218638
chr111637750016377554E074-30694
chr111637761816377865E074-30383
chr111637787216379279E074-28969
chr111642335916423409E07415111
chr111642353316423583E07415285
chr111642375816423847E07415510
chr111642393316424171E07415685
chr111642420716424321E07415959
chr111642434416425205E07416096
chr111642612016426180E07417872
chr111642632716426377E07418079
chr111642638116426605E07418133
chr111642661516426698E07418367
chr111642688616426963E07418638
chr111642698316427265E07418735
chr111638665616386706E081-21542
chr111638674616388226E081-20022
chr111638832616388389E081-19859
chr111638881716389159E081-19089
chr111642638116426605E08118133
chr111642661516426698E08118367
chr111643871216439091E08130464
chr111638665616386706E082-21542
chr111638674616388226E082-20022
chr111643871216439091E08230464