rs223011

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0363 (10852/29862,GnomAD)
C==0380 (11067/29118,TOPMED)
C==0363 (1819/5008,1000G)
C==0364 (1403/3854,ALSPAC)
C==0371 (1374/3708,TWINSUK)
chr7:74167072 (GRCh38.p7) (7q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
128 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.74167072C>T
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.1696308C>T
GRCh37.p13 chr 7NC_000007.13:g.73581402C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.415T=0.585
1000GenomesAmericanSub694C=0.400T=0.600
1000GenomesEast AsianSub1008C=0.248T=0.752
1000GenomesEuropeSub1006C=0.338T=0.662
1000GenomesGlobalStudy-wide5008C=0.363T=0.637
1000GenomesSouth AsianSub978C=0.410T=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.364T=0.636
The Genome Aggregation DatabaseAfricanSub8696C=0.406T=0.594
The Genome Aggregation DatabaseAmericanSub834C=0.360T=0.640
The Genome Aggregation DatabaseEast AsianSub1608C=0.239T=0.761
The Genome Aggregation DatabaseEuropeSub18426C=0.353T=0.646
The Genome Aggregation DatabaseGlobalStudy-wide29862C=0.363T=0.636
The Genome Aggregation DatabaseOtherSub298C=0.400T=0.600
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.380T=0.619
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.371T=0.629
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
rs2230110.000482alcohol dependence20201924

eQTL of rs223011 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 rs223011 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 )
chr717309741731102E06734666
chr717318071732298E06735499
chr717325851732689E06736277
chr717328951732935E06736587
chr717330881733213E06736780
chr717332871733501E06736979
chr717335511734544E06737243
chr717312481731722E06834940
chr717318071732298E06835499
chr717328951732935E06836587
chr717330881733213E06836780
chr717332871733501E06836979
chr717346041734749E06838296
chr716873721687791E069-8517
chr717308371730924E06934529
chr717309741731102E06934666
chr717325851732689E06936277
chr717328951732935E06936587
chr716841741684291E070-12017
chr716843571684408E070-11900
chr716844381684569E070-11739
chr716846661684706E070-11602
chr716851571685234E070-11074
chr716853031685368E070-10940
chr716855881685648E070-10660
chr716861361686186E070-10122
chr716864091686526E070-9782
chr716865651686767E070-9541
chr716867871687278E070-9030
chr716873721687791E070-8517
chr716886861688740E070-7568
chr716887441688794E070-7514
chr716889281689081E070-7227
chr717149241715056E07018616
chr717151921715239E07018884
chr717156881715760E07019380
chr717158121715862E07019504
chr717160051716055E07019697
chr717162061716349E07019898
chr717328951732935E07036587
chr717330881733213E07036780
chr717332871733501E07036979
chr717335511734544E07037243
chr717346041734749E07038296
chr717379921738078E07041684
chr717434811743569E07047173
chr717436781743793E07047370
chr717440531744188E07047745
chr717442041744310E07047896
chr717443511744421E07048043
chr717444911744571E07048183
chr717448391744927E07048531
chr717449691745069E07048661
chr717451321745233E07048824
chr716864091686526E071-9782
chr716865651686767E071-9541
chr716867871687278E071-9030
chr716873721687791E071-8517
chr717308371730924E07134529
chr717309741731102E07134666
chr717312481731722E07134940
chr717318071732298E07135499
chr717325851732689E07136277
chr717328951732935E07136587
chr717330881733213E07136780
chr717332871733501E07136979
chr717335511734544E07137243
chr716513191651912E072-44396
chr716523101652366E072-43942
chr716867871687278E072-9030
chr716873721687791E072-8517
chr717308371730924E07234529
chr717309741731102E07234666
chr717312481731722E07234940
chr717318071732298E07235499
chr717325851732689E07236277
chr717328951732935E07236587
chr717330881733213E07236780
chr717332871733501E07236979
chr717335511734544E07237243
chr716864091686526E073-9782
chr716865651686767E073-9541
chr716867871687278E073-9030
chr716873721687791E073-8517
chr717309741731102E07334666
chr717312481731722E07334940
chr717325851732689E07336277
chr717328951732935E07336587
chr717330881733213E07336780
chr717332871733501E07336979
chr716523101652366E074-43942
chr716873721687791E074-8517
chr717309741731102E07434666
chr717312481731722E07434940
chr717330881733213E07436780
chr717332871733501E07436979
chr717335511734544E07437243
chr716846661684706E081-11602
chr716864091686526E081-9782
chr716865651686767E081-9541
chr716867871687278E081-9030
chr716873721687791E081-8517
chr717120051712064E08115697
chr717146091714659E08118301
chr717148151714895E08118507
chr717149241715056E08118616
chr717158121715862E08119504
chr717318071732298E08135499
chr717325851732689E08136277
chr717328951732935E08136587
chr717330881733213E08136780
chr717332871733501E08136979
chr717335511734544E08137243
chr717346041734749E08138296
chr717350691735137E08138761
chr717440531744188E08147745
chr717442041744310E08147896
chr717443511744421E08148043
chr717444911744571E08148183
chr717448391744927E08148531
chr717449691745069E08148661
chr717451321745233E08148824
chr716867871687278E082-9030
chr716873721687791E082-8517
chr717330881733213E08236780
chr717332871733501E08236979
chr717335511734544E08237243
chr717346041734749E08238296










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr717033841705791E0687076
chr717058861708111E0689578
chr717058861708111E0699578
chr717033841705791E0707076
chr717033841705791E0737076
chr717058861708111E0739578
chr717058861708111E0749578
chr717033841705791E0827076
chr717058861708111E0829578
chr717081271710749E08211819
chr717107971710838E08214489