Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 7 | NC_000007.14:g.107745951G>A |
GRCh37.p13 chr 7 | NC_000007.13:g.107386396G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CBLL1 transcript variant 3 | NM_001284291.1:c. | N/A | Intron Variant |
CBLL1 transcript variant 1 | NM_024814.3:c. | N/A | Intron Variant |
CBLL1 transcript variant 2 | NR_024199.2:n. | N/A | Intron Variant |
CBLL1 transcript variant X3 | XM_011516580.2:c. | N/A | Intron Variant |
CBLL1 transcript variant X1 | XM_017012643.1:c. | N/A | Intron Variant |
CBLL1 transcript variant X6 | XM_017012644.1:c. | N/A | Intron Variant |
CBLL1 transcript variant X8 | XM_017012645.1:c. | N/A | Intron Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC101927974 transcript variant X1 | XR_927849.2:n. | N/A | Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.983 | A=0.017 |
1000Genomes | American | Sub | 694 | G=0.720 | A=0.280 |
1000Genomes | East Asian | Sub | 1008 | G=0.646 | A=0.354 |
1000Genomes | Europe | Sub | 1006 | G=0.736 | A=0.264 |
1000Genomes | Global | Study-wide | 5008 | G=0.740 | A=0.260 |
1000Genomes | South Asian | Sub | 978 | G=0.530 | A=0.470 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.759 | A=0.241 |
The Genome Aggregation Database | African | Sub | 8714 | G=0.947 | A=0.053 |
The Genome Aggregation Database | American | Sub | 836 | G=0.690 | A=0.310 |
The Genome Aggregation Database | East Asian | Sub | 1606 | G=0.625 | A=0.375 |
The Genome Aggregation Database | Europe | Sub | 18436 | G=0.719 | A=0.280 |
The Genome Aggregation Database | Global | Study-wide | 29892 | G=0.780 | A=0.219 |
The Genome Aggregation Database | Other | Sub | 300 | G=0.780 | A=0.220 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.841 | A=0.159 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.748 | A=0.252 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10808154 | 8.33E-05 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 1.1747e-4 | 1515 | Cerebellum |
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 2.1985e-5 | 1515 | Frontal_Cortex_BA9 |
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 1.0521e-4 | 1515 | Cortex |
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 4.1131e-5 | 1515 | Cerebellar_Hemisphere |
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 4.3055e-3 | 1515 | Caudate_basal_ganglia |
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 2.6099e-4 | 1515 | Anterior_cingulate_cortex |
Chr7:107386396 | AC002467.7 | ENSG00000241764.3 | G>A | 1.0776e-3 | 1515 | Nucleus_accumbens_basal_ganglia |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr7 | 107383023 | 107383099 | E067 | -3297 |
chr7 | 107386669 | 107386772 | E067 | 273 |
chr7 | 107387624 | 107387709 | E067 | 1228 |
chr7 | 107387798 | 107387880 | E067 | 1402 |
chr7 | 107341168 | 107341256 | E068 | -45140 |
chr7 | 107341276 | 107341497 | E068 | -44899 |
chr7 | 107382753 | 107382818 | E068 | -3578 |
chr7 | 107386669 | 107386772 | E068 | 273 |
chr7 | 107387624 | 107387709 | E068 | 1228 |
chr7 | 107387798 | 107387880 | E068 | 1402 |
chr7 | 107387932 | 107387978 | E068 | 1536 |
chr7 | 107388350 | 107388400 | E068 | 1954 |
chr7 | 107337294 | 107337374 | E069 | -49022 |
chr7 | 107337495 | 107337545 | E069 | -48851 |
chr7 | 107383023 | 107383099 | E069 | -3297 |
chr7 | 107386669 | 107386772 | E069 | 273 |
chr7 | 107387624 | 107387709 | E069 | 1228 |
chr7 | 107387798 | 107387880 | E069 | 1402 |
chr7 | 107387932 | 107387978 | E069 | 1536 |
chr7 | 107337495 | 107337545 | E070 | -48851 |
chr7 | 107337639 | 107338679 | E070 | -47717 |
chr7 | 107383023 | 107383099 | E070 | -3297 |
chr7 | 107386669 | 107386772 | E070 | 273 |
chr7 | 107387798 | 107387880 | E070 | 1402 |
chr7 | 107387932 | 107387978 | E070 | 1536 |
chr7 | 107388350 | 107388400 | E070 | 1954 |
chr7 | 107337495 | 107337545 | E071 | -48851 |
chr7 | 107337639 | 107338679 | E071 | -47717 |
chr7 | 107383023 | 107383099 | E071 | -3297 |
chr7 | 107337639 | 107338679 | E072 | -47717 |
chr7 | 107383023 | 107383099 | E072 | -3297 |
chr7 | 107386669 | 107386772 | E072 | 273 |
chr7 | 107337639 | 107338679 | E073 | -47717 |
chr7 | 107337639 | 107338679 | E081 | -47717 |
chr7 | 107338996 | 107339076 | E081 | -47320 |
chr7 | 107337294 | 107337374 | E082 | -49022 |
chr7 | 107337495 | 107337545 | E082 | -48851 |
chr7 | 107337639 | 107338679 | E082 | -47717 |
chr7 | 107386669 | 107386772 | E082 | 273 |
chr7 | 107387798 | 107387880 | E082 | 1402 |
chr7 | 107387932 | 107387978 | E082 | 1536 |
chr7 | 107388350 | 107388400 | E082 | 1954 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr7 | 107383118 | 107385525 | E067 | -871 |
chr7 | 107383118 | 107385525 | E068 | -871 |
chr7 | 107383118 | 107385525 | E069 | -871 |
chr7 | 107383118 | 107385525 | E070 | -871 |
chr7 | 107383118 | 107385525 | E071 | -871 |
chr7 | 107383118 | 107385525 | E072 | -871 |
chr7 | 107383118 | 107385525 | E073 | -871 |
chr7 | 107383118 | 107385525 | E074 | -871 |
chr7 | 107383118 | 107385525 | E081 | -871 |
chr7 | 107383118 | 107385525 | E082 | -871 |