rs11224040

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0285 (8536/29890,GnomAD)
C=0342 (9979/29118,TOPMED)
C=0281 (1407/5008,1000G)
C=0242 (932/3854,ALSPAC)
C=0234 (867/3708,TWINSUK)
chr11:134857954 (GRCh38.p7) (11q25)
AD
GWASdb2
1   publication(s)
See rs on genome
96 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.134857954T>C
GRCh37.p13 chr 11NC_000011.9:g.134727848T>C
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG2NT_187581.1:g.84355T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.485C=0.515
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.885C=0.115
1000GenomesEuropeSub1006T=0.753C=0.247
1000GenomesGlobalStudy-wide5008T=0.719C=0.281
1000GenomesSouth AsianSub978T=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.758C=0.242
The Genome Aggregation DatabaseAfricanSub8688T=0.526C=0.474
The Genome Aggregation DatabaseAmericanSub838T=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1614T=0.882C=0.118
The Genome Aggregation DatabaseEuropeSub18448T=0.786C=0.213
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.714C=0.285
The Genome Aggregation DatabaseOtherSub302T=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.657C=0.342
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.766C=0.234
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs112240401.09E-05alcohol dependence23089632

eQTL of rs11224040 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 rs11224040 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 )
chr11134738148134738913E06710300
chr11134772237134772977E06744389
chr11134775089134775356E06747241
chr11134775515134775724E06747667
chr11134775755134775990E06747907
chr11134776098134776201E06748250
chr11134775089134775356E06847241
chr11134738148134738913E06910300
chr11134771846134772020E06943998
chr11134775089134775356E06947241
chr11134775515134775724E06947667
chr11134775755134775990E06947907
chr11134776098134776201E06948250
chr11134692843134693071E070-34777
chr11134693340134693390E070-34458
chr11134749946134750006E07022098
chr11134752768134752862E07024920
chr11134752941134753080E07025093
chr11134753479134753575E07025631
chr11134774124134774424E07046276
chr11134774893134775032E07047045
chr11134775089134775356E07047241
chr11134775515134775724E07047667
chr11134775755134775990E07047907
chr11134776098134776201E07048250
chr11134776813134776904E07048965
chr11134776914134776964E07049066
chr11134774893134775032E07147045
chr11134775089134775356E07147241
chr11134775515134775724E07147667
chr11134775755134775990E07147907
chr11134776098134776201E07148250
chr11134738148134738913E07210300
chr11134775089134775356E07247241
chr11134775515134775724E07247667
chr11134775755134775990E07247907
chr11134776098134776201E07248250
chr11134774893134775032E07347045
chr11134775089134775356E07347241
chr11134775515134775724E07347667
chr11134775755134775990E07347907
chr11134774893134775032E07447045
chr11134775089134775356E07447241
chr11134775515134775724E07447667
chr11134775755134775990E07447907
chr11134776098134776201E07448250
chr11134688985134689197E081-38651
chr11134689353134689728E081-38120
chr11134691687134691798E081-36050
chr11134692628134692695E081-35153
chr11134692843134693071E081-34777
chr11134693340134693390E081-34458
chr11134713529134713919E081-13929
chr11134714109134714187E081-13661
chr11134723466134723548E081-4300
chr11134723616134723738E081-4110
chr11134723991134724660E081-3188
chr11134724692134724975E081-2873
chr11134725011134725051E081-2797
chr11134725201134725251E081-2597
chr11134725526134725591E081-2257
chr11134725847134725993E081-1855
chr11134726090134726490E081-1358
chr11134726558134726643E081-1205
chr11134726920134726970E081-878
chr11134734433134734487E0816585
chr11134735330134735540E0817482
chr11134738148134738913E08110300
chr11134771440134771795E08143592
chr11134771846134772020E08143998
chr11134772237134772977E08144389
chr11134773001134773051E08145153
chr11134773214134773352E08145366
chr11134773409134773469E08145561
chr11134774893134775032E08147045
chr11134775089134775356E08147241
chr11134775515134775724E08147667
chr11134775755134775990E08147907
chr11134776098134776201E08148250
chr11134677948134678156E082-49692
chr11134678594134678644E082-49204
chr11134689353134689728E082-38120
chr11134690253134690636E082-37212
chr11134692628134692695E082-35153
chr11134692843134693071E082-34777
chr11134693340134693390E082-34458
chr11134713057134713107E082-14741
chr11134713529134713919E082-13929
chr11134714109134714187E082-13661
chr11134723616134723738E082-4110
chr11134723991134724660E082-3188
chr11134724692134724975E082-2873
chr11134726090134726490E082-1358
chr11134726558134726643E082-1205
chr11134771846134772020E08243998
chr11134772237134772977E08244389










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11134721761134721937E068-5911
chr11134721761134721937E070-5911
chr11134721946134722167E070-5681
chr11134722187134722254E070-5594