rs11246327

Homo sapiens
C>A
POLR2L : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0122 (3659/29926,GnomAD)
A=0099 (2883/29118,TOPMED)
A=0129 (647/5008,1000G)
A=0155 (599/3854,ALSPAC)
A=0148 (548/3708,TWINSUK)
chr11:840034 (GRCh38.p7) (11p15.5)
AD
GWASdb2
1   publication(s)
See rs on genome
161 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.840034C>A
GRCh37.p13 chr 11NC_000011.9:g.840034C>A
CD151 RefSeqGeneNG_007478.1:g.12083C>A

Gene: POLR2L, polymerase (RNA) II subunit L(minus strand)

Molecule type Change Amino acid[Codon] SO Term
POLR2L transcriptNM_021128.4:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.993A=0.007
1000GenomesAmericanSub694C=0.830A=0.170
1000GenomesEast AsianSub1008C=0.759A=0.241
1000GenomesEuropeSub1006C=0.874A=0.126
1000GenomesGlobalStudy-wide5008C=0.871A=0.129
1000GenomesSouth AsianSub978C=0.850A=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.845A=0.155
The Genome Aggregation DatabaseAfricanSub8718C=0.970A=0.030
The Genome Aggregation DatabaseAmericanSub838C=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1614C=0.761A=0.239
The Genome Aggregation DatabaseEuropeSub18454C=0.845A=0.154
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.877A=0.122
The Genome Aggregation DatabaseOtherSub302C=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.901A=0.099
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.852A=0.148
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
rs112463270.00036alcohol dependence20201924

eQTL of rs11246327 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 rs11246327 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 )
chr11811429812418E067-27616
chr11859553860304E06719519
chr11876502877035E06736468
chr11794043794710E068-45324
chr11854858854989E06814824
chr11855099855430E06815065
chr11875492875536E06835458
chr11875560875610E06835526
chr11875814876475E06835780
chr11876502877035E06836468
chr11811429812418E069-27616
chr11851279851799E06911245
chr11861910862787E06921876
chr11876502877035E06936468
chr11888877888980E06948843
chr11889033889297E06948999
chr11889305889607E06949271
chr11889672889726E06949638
chr11793350794013E070-46021
chr11794043794710E070-45324
chr11802799803038E070-36996
chr11803170803233E070-36801
chr11803237803529E070-36505
chr11803550803788E070-36246
chr11823374823481E070-16553
chr11823493823647E070-16387
chr11823923824235E070-15799
chr11851279851799E07011245
chr11854356854477E07014322
chr11854632854741E07014598
chr11854858854989E07014824
chr11856232856419E07016198
chr11856538856880E07016504
chr11858325859057E07018291
chr11889033889297E07048999
chr11889305889607E07049271
chr11889672889726E07049638
chr11794043794710E071-45324
chr11811429812418E071-27616
chr11812431812503E071-27531
chr11812514812747E071-27287
chr11822657822747E071-17287
chr11851279851799E07111245
chr11854021854297E07113987
chr11854356854477E07114322
chr11854632854741E07114598
chr11854858854989E07114824
chr11855099855430E07115065
chr11855505855641E07115471
chr11857935858289E07117901
chr11859403859479E07119369
chr11860410860523E07120376
chr11861910862787E07121876
chr11876502877035E07136468
chr11888877888980E07148843
chr11889033889297E07148999
chr11889305889607E07149271
chr11889672889726E07149638
chr11793350794013E072-46021
chr11839900841657E0720
chr11854858854989E07214824
chr11855099855430E07215065
chr11855505855641E07215471
chr11855785856113E07215751
chr11876502877035E07236468
chr11889033889297E07248999
chr11889305889607E07249271
chr11889672889726E07249638
chr11793350794013E073-46021
chr11798811798876E073-41158
chr11798996799393E073-40641
chr11803550803788E073-36246
chr11811429812418E073-27616
chr11839900841657E0730
chr11854632854741E07314598
chr11854858854989E07314824
chr11855099855430E07315065
chr11855505855641E07315471
chr11855785856113E07315751
chr11856162856212E07316128
chr11856232856419E07316198
chr11860410860523E07320376
chr11861910862787E07321876
chr11862903863237E07322869
chr11875814876475E07335780
chr11876502877035E07336468
chr11889033889297E07348999
chr11889305889607E07349271
chr11889672889726E07349638
chr11859553860304E07419519
chr11888376888632E07448342
chr11888877888980E07448843
chr11889033889297E07448999
chr11889305889607E07449271
chr11889672889726E07449638
chr11790505791483E081-48551
chr11794043794710E081-45324
chr11794737794810E081-45224
chr11811429812418E081-27616
chr11823752823915E081-16119
chr11823923824235E081-15799
chr11835470835614E081-4420
chr11839900841657E0810
chr11851279851799E08111245
chr11851825851959E08111791
chr11852049852241E08112015
chr11852457852507E08112423
chr11852512852687E08112478
chr11852716852861E08112682
chr11853062853114E08113028
chr11853122853252E08113088
chr11853492853690E08113458
chr11854356854477E08114322
chr11854632854741E08114598
chr11854858854989E08114824
chr11855099855430E08115065
chr11855505855641E08115471
chr11855785856113E08115751
chr11856162856212E08116128
chr11856232856419E08116198
chr11856538856880E08116504
chr11856923857420E08116889
chr11857724857923E08117690
chr11857935858289E08117901
chr11858325859057E08118291
chr11859128859317E08119094
chr11859403859479E08119369
chr11859553860304E08119519
chr11860410860523E08120376
chr11861910862787E08121876
chr11862903863237E08122869
chr11863247863583E08123213
chr11863615864132E08123581
chr11871840872160E08131806
chr11875304875344E08135270
chr11875492875536E08135458
chr11875560875610E08135526
chr11875814876475E08135780
chr11876502877035E08136468
chr11888022888257E08147988
chr11888376888632E08148342
chr11888877888980E08148843
chr11889033889297E08148999
chr11889305889607E08149271
chr11889672889726E08149638
chr11793350794013E082-46021
chr11794043794710E082-45324
chr11794737794810E082-45224
chr11811429812418E082-27616
chr11851279851799E08211245
chr11856162856212E08216128
chr11856232856419E08216198
chr11856538856880E08216504
chr11861910862787E08221876
chr11863615864132E08223581
chr11888022888257E08247988
chr11888376888632E08248342
chr11888877888980E08248843
chr11889033889297E08248999
chr11889305889607E08249271
chr11889672889726E08249638










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11790352790402E067-49632
chr11808498810615E067-29419
chr11810672810745E067-29289
chr11790352790402E068-49632
chr11808498810615E068-29419
chr11810672810745E068-29289
chr11826751834264E068-5770
chr11841798847146E0681764
chr11849186849948E0689152
chr11849957850557E0689923
chr11790352790402E069-49632
chr11808498810615E069-29419
chr11810672810745E069-29289
chr11849186849948E0699152
chr11849957850557E0699923
chr11790352790402E070-49632
chr11808498810615E070-29419
chr11810672810745E070-29289
chr11841798847146E0701764
chr11849186849948E0709152
chr11849957850557E0709923
chr11808498810615E071-29419
chr11810672810745E071-29289
chr11841798847146E0711764
chr11849957850557E0719923
chr11790352790402E072-49632
chr11808498810615E072-29419
chr11810672810745E072-29289
chr11808498810615E073-29419
chr11810672810745E073-29289
chr11841798847146E0731764
chr11849186849948E0739152
chr11849957850557E0739923
chr11808498810615E074-29419
chr11810672810745E074-29289
chr11841798847146E0741764
chr11808498810615E081-29419
chr11790352790402E082-49632
chr11808498810615E082-29419
chr11810672810745E082-29289
chr11841798847146E0821764
chr11849186849948E0829152
chr11849957850557E0829923