Variant report
| Variant | rs4468382 |
|---|---|
| Chromosome Location | chr12:60490365-60490366 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257294 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs10747866 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10877397 | 0.89[AMR][1000 genomes] |
| rs2364149 | 1.00[MEX][hapmap];0.80[YRI][hapmap] |
| rs3847661 | 1.00[AMR][1000 genomes] |
| rs3912932 | 1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4310655 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4758851 | 0.87[AMR][1000 genomes] |
| rs7132957 | 0.87[AMR][1000 genomes] |
| rs7297367 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7301616 | 1.00[MEX][hapmap];0.80[YRI][hapmap] |
| rs903034 | 0.95[AFR][1000 genomes];0.87[AMR][1000 genomes] |
| rs903035 | 0.95[AFR][1000 genomes];0.87[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1048137 | chr12:60432594-60515455 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv428591 | chr12:60446360-60631044 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv427913 | chr12:60462443-60569344 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | esv2760273 | chr12:60489188-60561925 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60478600-60492800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
