Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.238106193G>A |
GRCh37.p13 chr 2 | NC_000002.11:g.239014834G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ESPNL transcript variant 1 | NM_194312.3:c. | N/A | Intron Variant |
ESPNL transcript variant 2 | NM_001308370.1:c. | N/A | Genic Upstream Transcript Variant |
ESPNL transcript variant X1 | XM_011511087.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.910 | A=0.090 |
1000Genomes | American | Sub | 694 | G=0.820 | A=0.180 |
1000Genomes | East Asian | Sub | 1008 | G=0.972 | A=0.028 |
1000Genomes | Europe | Sub | 1006 | G=0.843 | A=0.157 |
1000Genomes | Global | Study-wide | 5008 | G=0.852 | A=0.148 |
1000Genomes | South Asian | Sub | 978 | G=0.680 | A=0.320 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.826 | A=0.174 |
The Genome Aggregation Database | African | Sub | 8714 | G=0.894 | A=0.106 |
The Genome Aggregation Database | American | Sub | 838 | G=0.820 | A=0.180 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=0.975 | A=0.025 |
The Genome Aggregation Database | Europe | Sub | 18452 | G=0.859 | A=0.140 |
The Genome Aggregation Database | Global | Study-wide | 29926 | G=0.875 | A=0.124 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.900 | A=0.100 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.872 | A=0.127 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.815 | A=0.185 |
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 |
---|---|---|---|
rs4663285 | 0.000139 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr2:239014834 | SCLY | ENSG00000132330.12 | G>A | 7.8532e-10 | 45304 | Cerebellum |
Chr2:239014834 | SCLY | ENSG00000132330.12 | G>A | 1.0714e-8 | 45304 | Cortex |
Chr2:239014834 | SCLY | ENSG00000132330.12 | G>A | 2.0850e-8 | 45304 | Cerebellar_Hemisphere |
Chr2:239014834 | SCLY | ENSG00000132330.12 | G>A | 7.2091e-4 | 45304 | Anterior_cingulate_cortex |
Probe ID | Position | Gene | beta | p-value |
---|---|---|---|---|
cg03558837 | chr2:239029375 | ESPNL | 0.0698648613651258 | 7.1311e-17 |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr2 | 238970839 | 238970899 | E067 | -43935 |
chr2 | 238990205 | 238990255 | E067 | -24579 |
chr2 | 238990452 | 238990751 | E067 | -24083 |
chr2 | 238970839 | 238970899 | E068 | -43935 |
chr2 | 239017313 | 239017876 | E068 | 2479 |
chr2 | 238970839 | 238970899 | E069 | -43935 |
chr2 | 238989790 | 238989866 | E069 | -24968 |
chr2 | 238989941 | 238990032 | E069 | -24802 |
chr2 | 238990205 | 238990255 | E069 | -24579 |
chr2 | 238970839 | 238970899 | E070 | -43935 |
chr2 | 238970839 | 238970899 | E071 | -43935 |
chr2 | 238989247 | 238989354 | E071 | -25480 |
chr2 | 238989790 | 238989866 | E071 | -24968 |
chr2 | 238989941 | 238990032 | E071 | -24802 |
chr2 | 238990205 | 238990255 | E071 | -24579 |
chr2 | 238990452 | 238990751 | E071 | -24083 |
chr2 | 239007116 | 239007529 | E071 | -7305 |
chr2 | 239017176 | 239017226 | E071 | 2342 |
chr2 | 239017313 | 239017876 | E071 | 2479 |
chr2 | 238989790 | 238989866 | E072 | -24968 |
chr2 | 238989941 | 238990032 | E072 | -24802 |
chr2 | 238990205 | 238990255 | E072 | -24579 |
chr2 | 238990452 | 238990751 | E072 | -24083 |
chr2 | 239014417 | 239014467 | E072 | -367 |
chr2 | 239014951 | 239015001 | E072 | 117 |
chr2 | 238970839 | 238970899 | E073 | -43935 |
chr2 | 239014951 | 239015001 | E073 | 117 |
chr2 | 238989790 | 238989866 | E074 | -24968 |
chr2 | 238989941 | 238990032 | E074 | -24802 |
chr2 | 238990452 | 238990751 | E074 | -24083 |
chr2 | 239017313 | 239017876 | E074 | 2479 |
chr2 | 238994008 | 238994058 | E081 | -20776 |
chr2 | 238994372 | 238994803 | E081 | -20031 |
chr2 | 238993565 | 238993671 | E082 | -21163 |
chr2 | 238994008 | 238994058 | E082 | -20776 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 238968700 | 238970607 | E067 | -44227 |
chr2 | 238968700 | 238970607 | E068 | -44227 |
chr2 | 238968700 | 238970607 | E069 | -44227 |
chr2 | 238968700 | 238970607 | E070 | -44227 |
chr2 | 238968700 | 238970607 | E071 | -44227 |
chr2 | 238968700 | 238970607 | E072 | -44227 |
chr2 | 238968700 | 238970607 | E073 | -44227 |
chr2 | 238968700 | 238970607 | E074 | -44227 |
chr2 | 238968700 | 238970607 | E081 | -44227 |
chr2 | 238968700 | 238970607 | E082 | -44227 |