rs2023712

Homo sapiens
C>T
CBLL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0253 (7548/29826,GnomAD)
C==0259 (7565/29118,TOPMED)
C==0189 (947/5008,1000G)
C==0295 (1137/3854,ALSPAC)
C==0298 (1104/3708,TWINSUK)
chr7:107749842 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107749842C>T
GRCh37.p13 chr 7NC_000007.13:g.107390287C>T

Gene: CBLL1, Cbl proto-oncogene like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CBLL1 transcript variant 3NM_001284291.1:c.N/AIntron Variant
CBLL1 transcript variant 1NM_024814.3:c.N/AIntron Variant
CBLL1 transcript variant 2NR_024199.2:n.N/AIntron Variant
CBLL1 transcript variant X3XM_011516580.2:c.N/AIntron Variant
CBLL1 transcript variant X1XM_017012643.1:c.N/AIntron Variant
CBLL1 transcript variant X6XM_017012644.1:c.N/AIntron Variant
CBLL1 transcript variant X8XM_017012645.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.247T=0.753
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.017T=0.983
1000GenomesEuropeSub1006C=0.304T=0.696
1000GenomesGlobalStudy-wide5008C=0.189T=0.811
1000GenomesSouth AsianSub978C=0.140T=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.295T=0.705
The Genome Aggregation DatabaseAfricanSub8706C=0.252T=0.748
The Genome Aggregation DatabaseAmericanSub832C=0.170T=0.830
The Genome Aggregation DatabaseEast AsianSub1622C=0.011T=0.989
The Genome Aggregation DatabaseEuropeSub18364C=0.277T=0.722
The Genome Aggregation DatabaseGlobalStudy-wide29826C=0.253T=0.746
The Genome Aggregation DatabaseOtherSub302C=0.300T=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.259T=0.740
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.298T=0.702
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs20237124.77E-05alcohol consumption23743675

eQTL of rs2023712 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 rs2023712 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 )
chr7107383023107383099E067-7188
chr7107386669107386772E067-3515
chr7107387624107387709E067-2578
chr7107387798107387880E067-2407
chr7107341168107341256E068-49031
chr7107341276107341497E068-48790
chr7107382753107382818E068-7469
chr7107386669107386772E068-3515
chr7107387624107387709E068-2578
chr7107387798107387880E068-2407
chr7107387932107387978E068-2309
chr7107388350107388400E068-1887
chr7107383023107383099E069-7188
chr7107386669107386772E069-3515
chr7107387624107387709E069-2578
chr7107387798107387880E069-2407
chr7107387932107387978E069-2309
chr7107383023107383099E070-7188
chr7107386669107386772E070-3515
chr7107387798107387880E070-2407
chr7107387932107387978E070-2309
chr7107388350107388400E070-1887
chr7107383023107383099E071-7188
chr7107383023107383099E072-7188
chr7107386669107386772E072-3515
chr7107386669107386772E082-3515
chr7107387798107387880E082-2407
chr7107387932107387978E082-2309
chr7107388350107388400E082-1887







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E067-4762
chr7107383118107385525E068-4762
chr7107383118107385525E069-4762
chr7107383118107385525E070-4762
chr7107383118107385525E071-4762
chr7107383118107385525E072-4762
chr7107383118107385525E073-4762
chr7107383118107385525E074-4762
chr7107383118107385525E081-4762
chr7107383118107385525E082-4762