rs9957779

Homo sapiens
A>G
ZBTB7C : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0324 (9713/29902,GnomAD)
G=0360 (10507/29118,TOPMED)
G=0285 (1429/5008,1000G)
G=0289 (1115/3854,ALSPAC)
G=0302 (1118/3708,TWINSUK)
chr18:48291377 (GRCh38.p7) (18q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
147 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.48291377A>G
GRCh37.p13 chr 18NC_000018.9:g.45817748A>G

Gene: ZBTB7C, zinc finger and BTB domain containing 7C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZBTB7C transcript variant 1NM_001318841.1:c.N/AIntron Variant
ZBTB7C transcript variant 2NM_001039360.2:c.N/AGenic Upstream Transcript Variant
ZBTB7C transcript variant X13XM_005258229.4:c.N/AIntron Variant
ZBTB7C transcript variant X1XM_011525861.2:c.N/AIntron Variant
ZBTB7C transcript variant X5XM_011525863.2:c.N/AIntron Variant
ZBTB7C transcript variant X6XM_011525864.2:c.N/AIntron Variant
ZBTB7C transcript variant X7XM_011525865.2:c.N/AIntron Variant
ZBTB7C transcript variant X9XM_011525867.2:c.N/AIntron Variant
ZBTB7C transcript variant X10XM_011525869.2:c.N/AIntron Variant
ZBTB7C transcript variant X12XM_011525870.2:c.N/AIntron Variant
ZBTB7C transcript variant X2XM_017025605.1:c.N/AIntron Variant
ZBTB7C transcript variant X3XM_017025606.1:c.N/AIntron Variant
ZBTB7C transcript variant X4XM_017025607.1:c.N/AIntron Variant
ZBTB7C transcript variant X10XM_017025608.1:c.N/AIntron Variant
ZBTB7C transcript variant X12XM_017025609.1:c.N/AIntron Variant
ZBTB7C transcript variant X8XM_011525866.2:c.N/AGenic Upstream Transcript Variant
ZBTB7C transcript variant X14XM_011525871.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.570G=0.430
1000GenomesAmericanSub694A=0.750G=0.250
1000GenomesEast AsianSub1008A=0.875G=0.125
1000GenomesEuropeSub1006A=0.724G=0.276
1000GenomesGlobalStudy-wide5008A=0.715G=0.285
1000GenomesSouth AsianSub978A=0.710G=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.711G=0.289
The Genome Aggregation DatabaseAfricanSub8690A=0.598G=0.402
The Genome Aggregation DatabaseAmericanSub836A=0.760G=0.240
The Genome Aggregation DatabaseEast AsianSub1622A=0.880G=0.120
The Genome Aggregation DatabaseEuropeSub18452A=0.690G=0.309
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.675G=0.324
The Genome Aggregation DatabaseOtherSub302A=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.639G=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.698G=0.302
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
rs99577790.00019alcohol dependence(early age of onset)20201924
rs99577790.00058alcohol dependence20201924

eQTL of rs9957779 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 rs9957779 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 )
chr184578950845789590E067-28158
chr184578969145789741E067-28007
chr184579045645791448E067-26300
chr184579148645791576E067-26172
chr184579176645792129E067-25619
chr184579220245792282E067-25466
chr184579233345792383E067-25365
chr184581674645817196E067-552
chr184582133445821505E0673586
chr184582154845821641E0673800
chr184582173245821862E0673984
chr184582187845821966E0674130
chr184583337545833434E06715627
chr184583345545833562E06715707
chr184583483045834931E06717082
chr184585975045860031E06742002
chr184586003745860217E06742289
chr184586679945866886E06749051
chr184586694045867297E06749192
chr184586735645867452E06749608
chr184586747245867528E06749724
chr184579045645791448E068-26300
chr184579148645791576E068-26172
chr184579176645792129E068-25619
chr184579220245792282E068-25466
chr184579233345792383E068-25365
chr184581674645817196E068-552
chr184583688245836965E06819134
chr184584111745841548E06823369
chr184584155245841606E06823804
chr184584167645841790E06823928
chr184585961045859670E06841862
chr184585975045860031E06842002
chr184586003745860217E06842289
chr184578950845789590E069-28158
chr184578969145789741E069-28007
chr184579045645791448E069-26300
chr184579148645791576E069-26172
chr184579176645792129E069-25619
chr184579220245792282E069-25466
chr184579233345792383E069-25365
chr184581674645817196E069-552
chr184582173245821862E0693984
chr184582187845821966E0694130
chr184582201345822612E0694265
chr184583532045835370E06917572
chr184583577745835926E06918029
chr184583723545837295E06919487
chr184583732245837366E06919574
chr184585961045859670E06941862
chr184585975045860031E06942002
chr184586003745860217E06942289
chr184586694045867297E06949192
chr184586735645867452E06949608
chr184586747245867528E06949724
chr184583577745835926E07018029
chr184583995745840041E07022209
chr184584021445840286E07022466
chr184584031645840517E07022568
chr184584111745841548E07023369
chr184586550345865553E07047755
chr184586679945866886E07049051
chr184586694045867297E07049192
chr184586735645867452E07049608
chr184586747245867528E07049724
chr184579045645791448E071-26300
chr184579148645791576E071-26172
chr184579176645792129E071-25619
chr184581674645817196E071-552
chr184582133445821505E0713586
chr184582154845821641E0713800
chr184582173245821862E0713984
chr184582187845821966E0714130
chr184582201345822612E0714265
chr184584435545844443E07126607
chr184584448145844558E07126733
chr184584464945845143E07126901
chr184584514945845192E07127401
chr184584522445845320E07127476
chr184584545745845562E07127709
chr184584571345845763E07127965
chr184584606245846122E07128314
chr184584621045846655E07128462
chr184584672045846962E07128972
chr184586649545866567E07148747
chr184586657745866660E07148829
chr184586679945866886E07149051
chr184586694045867297E07149192
chr184586735645867452E07149608
chr184586747245867528E07149724
chr184579045645791448E072-26300
chr184579148645791576E072-26172
chr184579176645792129E072-25619
chr184579220245792282E072-25466
chr184579233345792383E072-25365
chr184581674645817196E072-552
chr184581724645817296E072-452
chr184582154845821641E0723800
chr184584545745845562E07227709
chr184586264445862986E07244896
chr184586300245863308E07245254
chr184586657745866660E07248829
chr184586679945866886E07249051
chr184586694045867297E07249192
chr184586735645867452E07249608
chr184586747245867528E07249724
chr184579045645791448E073-26300
chr184583345545833562E07315707
chr184583442245834716E07316674
chr184584111745841548E07323369
chr184584155245841606E07323804
chr184585975045860031E07342002
chr184586003745860217E07342289
chr184586041545860522E07342667
chr184586657745866660E07348829
chr184586679945866886E07349051
chr184586694045867297E07349192
chr184586735645867452E07349608
chr184586747245867528E07349724
chr184578969145789741E074-28007
chr184579045645791448E074-26300
chr184579148645791576E074-26172
chr184579176645792129E074-25619
chr184579220245792282E074-25466
chr184579233345792383E074-25365
chr184581674645817196E074-552
chr184582154845821641E0743800
chr184582173245821862E0743984
chr184582187845821966E0744130
chr184583723545837295E07419487
chr184583732245837366E07419574
chr184583752945837613E07419781
chr184585961045859670E07441862
chr184585975045860031E07442002
chr184586003745860217E07442289
chr184583577745835926E08118029
chr184584514945845192E08127401
chr184584522445845320E08127476
chr184586550345865553E08147755
chr184586679945866886E08149051
chr184586694045867297E08149192
chr184586735645867452E08149608
chr184586747245867528E08149724
chr184586679945866886E08249051
chr184586694045867297E08249192
chr184586735645867452E08249608
chr184586747245867528E08249724