rs2789686

Homo sapiens
T>C
ANXA11 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0155 (4659/29876,GnomAD)
T==0185 (5403/29118,TOPMED)
T==0134 (672/5008,1000G)
T==0112 (433/3854,ALSPAC)
T==0112 (415/3708,TWINSUK)
chr10:80155380 (GRCh38.p7) (10q22.3)
AD
GWASdb2
3   publication(s)
See rs on genome
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.80155380T>C
GRCh37.p13 chr 10NC_000010.10:g.81915136T>C

Gene: ANXA11, annexin A11(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANXA11 transcript variant aNM_001157.2:c.N/A3 Prime UTR Variant
ANXA11 transcript variant bNM_145868.1:c.N/A3 Prime UTR Variant
ANXA11 transcript variant cNM_145869.1:c.N/A3 Prime UTR Variant
ANXA11 transcript variant dNM_001278407.1:c.N/A3 Prime UTR Variant
ANXA11 transcript variant eNM_001278408.1:c.N/A3 Prime UTR Variant
ANXA11 transcript variant fNM_001278409.1:c.N/A3 Prime UTR Variant
ANXA11 transcript variant X1XM_005269741.4:c.N/A3 Prime UTR Variant
ANXA11 transcript variant X6XM_011539736.2:c.N/A3 Prime UTR Variant
ANXA11 transcript variant X3XM_005269742.1:c.N/AGenic Downstream Transcript Variant
ANXA11 transcript variant X2XM_006717813.1:c.N/AGenic Downstream Transcript Variant
ANXA11 transcript variant X4XM_006717814.3:c.N/AGenic Downstream Transcript Variant
ANXA11 transcript variant X3XM_011539735.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.334C=0.666
1000GenomesAmericanSub694T=0.110C=0.890
1000GenomesEast AsianSub1008T=0.003C=0.997
1000GenomesEuropeSub1006T=0.101C=0.899
1000GenomesGlobalStudy-wide5008T=0.134C=0.866
1000GenomesSouth AsianSub978T=0.050C=0.950
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.112C=0.888
The Genome Aggregation DatabaseAfricanSub8704T=0.282C=0.718
The Genome Aggregation DatabaseAmericanSub838T=0.080C=0.920
The Genome Aggregation DatabaseEast AsianSub1620T=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18412T=0.112C=0.887
The Genome Aggregation DatabaseGlobalStudy-wide29876T=0.155C=0.844
The Genome Aggregation DatabaseOtherSub302T=0.230C=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.185C=0.814
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.112C=0.888
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
23151485Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans.Levin AMGenes Immun
21368773Peripheral blood gene expression profiles in metabolic syndrome, coronary artery disease and type 2 diabetes.Grayson BLGenes Immun

P-Value

SNP ID p-value Traits Study
rs27896861.4E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2789686 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 rs2789686 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 )
chr108188661681886989E067-28147
chr108189645981897501E067-17635
chr108191601081916266E067874
chr108191786281919298E0672726
chr108192718881927238E06712052
chr108192730381927502E06712167
chr108192754981927666E06712413
chr108193232581932406E06717189
chr108193242981932542E06717293
chr108193255681932743E06717420
chr108193277181933025E06717635
chr108193304181933121E06717905
chr108193327481933651E06718138
chr108194696481948227E06731828
chr108194837681948840E06733240
chr108195713681957343E06742000
chr108195737181957411E06742235
chr108195752181957603E06742385
chr108195771081958067E06742574
chr108195810181958624E06742965
chr108196194681962112E06746810
chr108189645981897501E068-17635
chr108189820681898260E068-16876
chr108191786281919298E0682726
chr108191930181919546E0684165
chr108191956781919645E0684431
chr108192718881927238E06812052
chr108192730381927502E06812167
chr108192754981927666E06812413
chr108192770281928127E06812566
chr108192814381928271E06813007
chr108193277181933025E06817635
chr108193304181933121E06817905
chr108193327481933651E06818138
chr108193621581936307E06821079
chr108193644681936589E06821310
chr108193678581936897E06821649
chr108193719781937402E06822061
chr108193744381938267E06822307
chr108193831281938612E06823176
chr108193902981939123E06823893
chr108194696481948227E06831828
chr108194837681948840E06833240
chr108195565881957121E06840522
chr108195713681957343E06842000
chr108195737181957411E06842235
chr108195752181957603E06842385
chr108195771081958067E06842574
chr108196115981961918E06846023
chr108196194681962112E06846810
chr108196220281962262E06847066
chr108196241481962542E06847278
chr108196269381962766E06847557
chr108188661681886989E069-28147
chr108189772981898057E069-17079
chr108189820681898260E069-16876
chr108189833481898499E069-16637
chr108189850881898561E069-16575
chr108191768581917835E0692549
chr108191786281919298E0692726
chr108193621581936307E06921079
chr108193644681936589E06921310
chr108195565881957121E06940522
chr108195771081958067E06942574
chr108195810181958624E06942965
chr108196096281961090E06945826
chr108188661681886989E071-28147
chr108189645981897501E071-17635
chr108189772981898057E071-17079
chr108190357781905120E071-10016
chr108190536881906090E071-9046
chr108190616081906204E071-8932
chr108190626481906397E071-8739
chr108191768581917835E0712549
chr108191786281919298E0712726
chr108191930181919546E0714165
chr108191956781919645E0714431
chr108191969581919754E0714559
chr108191989881919948E0714762
chr108193277181933025E07117635
chr108193304181933121E07117905
chr108193744381938267E07122307
chr108193831281938612E07123176
chr108193872381938777E07123587
chr108193897881939018E07123842
chr108193902981939123E07123893
chr108194630181946901E07131165
chr108194696481948227E07131828
chr108194898681949098E07133850
chr108195565881957121E07140522
chr108195771081958067E07142574
chr108195810181958624E07142965
chr108195867681958806E07143540
chr108196194681962112E07146810
chr108189645981897501E072-17635
chr108189772981898057E072-17079
chr108189820681898260E072-16876
chr108190536881906090E072-9046
chr108190616081906204E072-8932
chr108191786281919298E0722726
chr108192339581924117E0728259
chr108192730381927502E07212167
chr108192754981927666E07212413
chr108192770281928127E07212566
chr108192814381928271E07213007
chr108193621581936307E07221079
chr108193644681936589E07221310
chr108193744381938267E07222307
chr108194696481948227E07231828
chr108195412081954418E07238984
chr108195443681954505E07239300
chr108195459881954792E07239462
chr108195485881954984E07239722
chr108195502681955279E07239890
chr108195528781955365E07240151
chr108195554981955606E07240413
chr108195565881957121E07240522
chr108195713681957343E07242000
chr108195771081958067E07242574
chr108195810181958624E07242965
chr108189645981897501E073-17635
chr108189772981898057E073-17079
chr108191601081916266E073874
chr108191768581917835E0732549
chr108191786281919298E0732726
chr108192648681926598E07311350
chr108192704081927126E07311904
chr108192718881927238E07312052
chr108192730381927502E07312167
chr108192754981927666E07312413
chr108192770281928127E07312566
chr108192814381928271E07313007
chr108193277181933025E07317635
chr108193304181933121E07317905
chr108193327481933651E07318138
chr108193744381938267E07322307
chr108194023381940382E07325097
chr108195771081958067E07342574
chr108195810181958624E07342965
chr108196096281961090E07345826
chr108196115981961918E07346023
chr108196194681962112E07346810
chr108196220281962262E07347066
chr108189645981897501E074-17635
chr108189772981898057E074-17079
chr108192704081927126E07411904
chr108192718881927238E07412052
chr108192730381927502E07412167
chr108192754981927666E07412413
chr108193277181933025E07417635
chr108193304181933121E07417905
chr108193744381938267E07422307
chr108194696481948227E07431828







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr108189202981893557E067-21579
chr108189202981893557E068-21579
chr108189202981893557E072-21579
chr108189202981893557E073-21579
chr108189202981893557E082-21579