| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 1 | NC_000001.11:g.147545754A>C |
| GRCh37.p13 chr 1 fix patch HG1287_PATCH | NW_003871055.3:g.4361167A>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.147017524A>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BCL9 transcript | NM_004326.3:c. | N/A | Intron Variant |
| BCL9 transcript variant X2 | XM_005277417.3:c. | N/A | Intron Variant |
| BCL9 transcript variant X3 | XM_005277418.3:c. | N/A | Intron Variant |
| BCL9 transcript variant X1 | XM_005272971.4:c. | N/A | Genic Upstream Transcript Variant |
| BCL9 transcript variant X4 | XM_017002026.1:c. | N/A | Genic Upstream Transcript Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.681 | C=0.319 |
| 1000Genomes | American | Sub | 694 | A=0.970 | C=0.030 |
| 1000Genomes | East Asian | Sub | 1008 | A=1.000 | C=0.000 |
| 1000Genomes | Europe | Sub | 1006 | A=0.968 | C=0.032 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.904 | C=0.096 |
| 1000Genomes | South Asian | Sub | 978 | A=0.990 | C=0.010 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.977 | C=0.023 |
| The Genome Aggregation Database | African | Sub | 8696 | A=0.713 | C=0.287 |
| The Genome Aggregation Database | American | Sub | 838 | A=0.970 | C=0.030 |
| The Genome Aggregation Database | East Asian | Sub | 1620 | A=1.000 | C=0.000 |
| The Genome Aggregation Database | Europe | Sub | 18508 | A=0.976 | C=0.023 |
| The Genome Aggregation Database | Global | Study-wide | 29964 | A=0.901 | C=0.099 |
| The Genome Aggregation Database | Other | Sub | 302 | A=0.970 | C=0.030 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.864 | C=0.135 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.979 | C=0.021 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 17158188 | Novel genes identified in a high-density genome wide association study for nicotine dependence. | Bierut LJ | Hum Mol Genet |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs12072533 | 0.000469 | nicotine dependence | 17158188 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
|---|---|---|---|---|---|---|---|
| There is no eQTL annotation for this SNP | |||||||
| 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 ) |
|---|---|---|---|---|
| chr1 | 4326943 | 4327027 | E069 | -34140 |
| chr1 | 4367034 | 4367088 | E069 | 5867 |
| chr1 | 4326943 | 4327027 | E070 | -34140 |
| chr1 | 4327271 | 4327328 | E070 | -33839 |
| chr1 | 4327561 | 4327792 | E070 | -33375 |
| chr1 | 4405193 | 4405289 | E070 | 44026 |
| chr1 | 4405979 | 4406023 | E070 | 44812 |
| chr1 | 4367602 | 4367657 | E071 | 6435 |
| chr1 | 4322889 | 4323358 | E081 | -37809 |
| chr1 | 4329656 | 4329758 | E081 | -31409 |
| chr1 | 4330613 | 4330782 | E081 | -30385 |
| chr1 | 4330794 | 4331107 | E081 | -30060 |
| chr1 | 4331379 | 4331448 | E081 | -29719 |
| chr1 | 4378234 | 4378397 | E081 | 17067 |
| chr1 | 4379480 | 4379551 | E081 | 18313 |
| chr1 | 4379607 | 4379900 | E081 | 18440 |
| chr1 | 4381821 | 4382075 | E081 | 20654 |
| chr1 | 4329656 | 4329758 | E082 | -31409 |
| chr1 | 4363845 | 4363914 | E082 | 2678 |
| chr1 | 4379480 | 4379551 | E082 | 18313 |
| chr1 | 4379607 | 4379900 | E082 | 18440 |
| chr1 | 4381821 | 4382075 | E082 | 20654 |