rs11223321

Homo sapiens
A>C
OPCML : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0247 (7403/29914,GnomAD)
C=0276 (8053/29118,TOPMED)
C=0252 (1263/5008,1000G)
C=0198 (763/3854,ALSPAC)
C=0196 (725/3708,TWINSUK)
chr11:133013102 (GRCh38.p7) (11q25)
AD
GWASdb2
1   publication(s)
See rs on genome
149 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.133013102A>C
GRCh37.p13 chr 11NC_000011.9:g.132882997A>C
OPCML RefSeqGeneNG_012107.1:g.524407T>G

Gene: OPCML, opioid binding protein/cell adhesion molecule-like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OPCML transcript variant 2NM_001012393.2:c.N/AIntron Variant
OPCML transcript variant 4NM_001319104.1:c.N/AIntron Variant
OPCML transcript variant 3NM_001319103.1:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant 5NM_001319105.1:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant 6NM_001319106.1:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant 1NM_002545.4:c.N/AGenic Upstream Transcript Variant
OPCML transcript variant X1XM_006718846.2:c.N/AIntron Variant
OPCML transcript variant X2XM_011542856.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.517C=0.483
1000GenomesAmericanSub694A=0.870C=0.130
1000GenomesEast AsianSub1008A=0.854C=0.146
1000GenomesEuropeSub1006A=0.818C=0.182
1000GenomesGlobalStudy-wide5008A=0.748C=0.252
1000GenomesSouth AsianSub978A=0.790C=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.802C=0.198
The Genome Aggregation DatabaseAfricanSub8694A=0.572C=0.428
The Genome Aggregation DatabaseAmericanSub832A=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1622A=0.877C=0.123
The Genome Aggregation DatabaseEuropeSub18464A=0.818C=0.181
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.752C=0.247
The Genome Aggregation DatabaseOtherSub302A=0.840C=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.723C=0.276
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.804C=0.196
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs112233210.000417alcohol dependence21314694

eQTL of rs11223321 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 rs11223321 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 )
chr11132840939132841034E067-41963
chr11132841128132841178E067-41819
chr11132841347132841413E067-41584
chr11132841510132841624E067-41373
chr11132841726132841776E067-41221
chr11132841840132841997E067-41000
chr11132842119132842169E067-40828
chr11132842478132843037E067-39960
chr11132917406132917592E06734409
chr11132917596132917909E06734599
chr11132918019132918167E06735022
chr11132918357132918421E06735360
chr11132918568132918618E06735571
chr11132840939132841034E068-41963
chr11132841128132841178E068-41819
chr11132841347132841413E068-41584
chr11132841510132841624E068-41373
chr11132841726132841776E068-41221
chr11132841840132841997E068-41000
chr11132842119132842169E068-40828
chr11132842478132843037E068-39960
chr11132917406132917592E06834409
chr11132917596132917909E06834599
chr11132918019132918167E06835022
chr11132833061132833126E069-49871
chr11132840939132841034E069-41963
chr11132841128132841178E069-41819
chr11132841347132841413E069-41584
chr11132841510132841624E069-41373
chr11132841726132841776E069-41221
chr11132841840132841997E069-41000
chr11132842119132842169E069-40828
chr11132842478132843037E069-39960
chr11132862430132862512E069-20485
chr11132916780132916858E06933783
chr11132916930132917007E06933933
chr11132917140132917225E06934143
chr11132917406132917592E06934409
chr11132917596132917909E06934599
chr11132918019132918167E06935022
chr11132918357132918421E06935360
chr11132918568132918618E06935571
chr11132833061132833126E070-49871
chr11132847182132847232E070-35765
chr11132847262132847481E070-35516
chr11132847516132847566E070-35431
chr11132847585132847635E070-35362
chr11132851871132851921E070-31076
chr11132852443132852552E070-30445
chr11132852581132852621E070-30376
chr11132852697132853122E070-29875
chr11132853128132853409E070-29588
chr11132853423132853520E070-29477
chr11132853644132853754E070-29243
chr11132854149132854244E070-28753
chr11132854275132854325E070-28672
chr11132857992132858113E070-24884
chr11132858384132858640E070-24357
chr11132862430132862512E070-20485
chr11132869044132869207E070-13790
chr11132869509132869891E070-13106
chr11132911916132912121E07028919
chr11132912199132912249E07029202
chr11132912443132912647E07029446
chr11132912907132913044E07029910
chr11132922445132922731E07039448
chr11132923113132923323E07040116
chr11132923575132923625E07040578
chr11132923662132923710E07040665
chr11132833061132833126E071-49871
chr11132840939132841034E071-41963
chr11132841128132841178E071-41819
chr11132841347132841413E071-41584
chr11132841510132841624E071-41373
chr11132841726132841776E071-41221
chr11132841840132841997E071-41000
chr11132842119132842169E071-40828
chr11132842478132843037E071-39960
chr11132843632132843892E071-39105
chr11132852697132853122E071-29875
chr11132916930132917007E07133933
chr11132917140132917225E07134143
chr11132917406132917592E07134409
chr11132917596132917909E07134599
chr11132918019132918167E07135022
chr11132918357132918421E07135360
chr11132918568132918618E07135571
chr11132833061132833126E072-49871
chr11132840939132841034E072-41963
chr11132841128132841178E072-41819
chr11132841347132841413E072-41584
chr11132841510132841624E072-41373
chr11132841726132841776E072-41221
chr11132841840132841997E072-41000
chr11132842119132842169E072-40828
chr11132842478132843037E072-39960
chr11132862430132862512E072-20485
chr11132916930132917007E07233933
chr11132917140132917225E07234143
chr11132917406132917592E07234409
chr11132917596132917909E07234599
chr11132918019132918167E07235022
chr11132833061132833126E073-49871
chr11132841840132841997E073-41000
chr11132842119132842169E073-40828
chr11132842478132843037E073-39960
chr11132862430132862512E073-20485
chr11132908710132909060E07325713
chr11132916930132917007E07333933
chr11132917140132917225E07334143
chr11132917406132917592E07334409
chr11132917596132917909E07334599
chr11132918019132918167E07335022
chr11132918357132918421E07335360
chr11132833061132833126E074-49871
chr11132840939132841034E074-41963
chr11132841128132841178E074-41819
chr11132841347132841413E074-41584
chr11132841510132841624E074-41373
chr11132841726132841776E074-41221
chr11132841840132841997E074-41000
chr11132842119132842169E074-40828
chr11132842478132843037E074-39960
chr11132916930132917007E07433933
chr11132917140132917225E07434143
chr11132917406132917592E07434409
chr11132917596132917909E07434599
chr11132918019132918167E07435022
chr11132918357132918421E07435360
chr11132918568132918618E07435571
chr11132833061132833126E081-49871
chr11132833584132833634E081-49363
chr11132852581132852621E081-30376
chr11132852697132853122E081-29875
chr11132853128132853409E081-29588
chr11132853423132853520E081-29477
chr11132853644132853754E081-29243
chr11132868869132868987E081-14010
chr11132869044132869207E081-13790
chr11132911009132911151E08128012
chr11132916242132916292E08133245
chr11132852697132853122E082-29875
chr11132853128132853409E082-29588
chr11132853423132853520E082-29477
chr11132889781132889831E0826784
chr11132889902132889952E0826905
chr11132889965132890015E0826968
chr11132910262132910709E08227265
chr11132910764132910922E08227767










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11132863867132864404E067-18593
chr11132863867132864404E069-18593
chr11132863867132864404E072-18593
chr11132863867132864404E073-18593
chr11132863867132864404E082-18593