rs7776819

Homo sapiens
A>G
CPVL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0223 (6686/29966,GnomAD)
G=0295 (8614/29118,TOPMED)
G=0230 (1151/5008,1000G)
G=0078 (299/3854,ALSPAC)
G=0077 (286/3708,TWINSUK)
chr7:29091146 (GRCh38.p7) (7p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
99 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.29091146A>G
GRCh37.p13 chr 7NC_000007.13:g.29130762A>G

Gene: CPVL, carboxypeptidase, vitellogenic like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CPVL transcript variant 2NM_019029.2:c.N/AIntron Variant
CPVL transcript variant 1NM_031311.3:c.N/AIntron Variant
CPVL transcript variant X1XM_011515437.1:c.N/AIntron Variant
CPVL transcript variant X2XM_017012366.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.343G=0.657
1000GenomesAmericanSub694A=0.900G=0.100
1000GenomesEast AsianSub1008A=0.865G=0.135
1000GenomesEuropeSub1006A=0.943G=0.057
1000GenomesGlobalStudy-wide5008A=0.770G=0.230
1000GenomesSouth AsianSub978A=0.980G=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.922G=0.078
The Genome Aggregation DatabaseAfricanSub8710A=0.422G=0.578
The Genome Aggregation DatabaseAmericanSub836A=0.900G=0.100
The Genome Aggregation DatabaseEast AsianSub1618A=0.845G=0.155
The Genome Aggregation DatabaseEuropeSub18500A=0.928G=0.071
The Genome Aggregation DatabaseGlobalStudy-wide29966A=0.776G=0.223
The Genome Aggregation DatabaseOtherSub302A=0.990G=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.704G=0.295
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.923G=0.077
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
rs77768190.00016alcohol dependence(early age of onset)20201924
rs77768190.00026alcohol dependence20201924

eQTL of rs7776819 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 rs7776819 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 )
chr72910290929103097E068-27665
chr72910290929103097E070-27665
chr72911480229114864E070-15898
chr72911519629115440E070-15322
chr72912056729120839E070-9923
chr72912096929121065E070-9697
chr72912110529121171E070-9591
chr72912123929121332E070-9430
chr72912982929130103E070-659
chr72913011229131739E0700
chr72915650929156754E07025747
chr72915676029156903E07025998
chr72915698129157116E07026219
chr72916141329161453E07030651
chr72916167029161720E07030908
chr72916178329161951E07031021
chr72916198229162320E07031220
chr72916243529162673E07031673
chr72911752429117604E071-13158
chr72911763429117716E071-13046
chr72911775529117859E071-12903
chr72911796329118060E071-12702
chr72911809929118848E071-11914
chr72912707529127221E071-3541
chr72912723329127461E071-3301
chr72912751829127739E071-3023
chr72912982929130103E071-659
chr72912707529127221E072-3541
chr72912723329127461E072-3301
chr72912751829127739E072-3023
chr72915309029153268E07222328
chr72915449929154601E07223737
chr72910253829102592E074-28170
chr72911715429117227E074-13535
chr72911752429117604E074-13158
chr72911763429117716E074-13046
chr72911775529117859E074-12903
chr72911796329118060E074-12702
chr72912982929130103E074-659
chr72914206029142727E07411298
chr72914272829142808E07411966
chr72915600629156504E07425244
chr72915650929156754E07425747
chr72915676029156903E07425998
chr72908604629086090E081-44672
chr72908614829086396E081-44366
chr72911060229111369E081-19393
chr72911137129111527E081-19235
chr72911165129111824E081-18938
chr72911196729112072E081-18690
chr72911752429117604E081-13158
chr72911763429117716E081-13046
chr72911775529117859E081-12903
chr72911796329118060E081-12702
chr72911809929118848E081-11914
chr72912674229126782E081-3980
chr72912707529127221E081-3541
chr72912723329127461E081-3301
chr72912751829127739E081-3023
chr72912791729128197E081-2565
chr72912824229128292E081-2470
chr72912982929130103E081-659
chr72913011229131739E0810
chr72913196529132018E0811203
chr72913247629132552E0811714
chr72913259729132655E0811835
chr72913288429132982E0812122
chr72913318329133223E0812421
chr72913441129134595E0813649
chr72913647729136527E0815715
chr72914571429145770E08114952
chr72914579429145848E08115032
chr72914593129146294E08115169
chr72915650929156754E08125747
chr72915676029156903E08125998
chr72915698129157116E08126219
chr72915792529158101E08127163
chr72911013829110317E082-20445
chr72911044629110496E082-20266
chr72911060229111369E082-19393
chr72911137129111527E082-19235
chr72911165129111824E082-18938
chr72911196729112072E082-18690
chr72911752429117604E082-13158
chr72911809929118848E082-11914
chr72912056729120839E082-9923
chr72912096929121065E082-9697
chr72912110529121171E082-9591
chr72912123929121332E082-9430
chr72912935129129409E082-1353
chr72912982929130103E082-659
chr72915482029155011E08224058
chr72915505029155190E08224288
chr72915550429155664E08224742
chr72915587029155994E08225108
chr72915600629156504E08225244
chr72915650929156754E08225747
chr72915676029156903E08225998
chr72915698129157116E08226219