Variant report
| Variant | rs11173373 |
|---|---|
| Chromosome Location | chr12:60615121-60615122 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:60610562..60614544-chr12:60614554..60617623,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11173321 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11173356 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11173383 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11173436 | 1.00[AMR][1000 genomes] |
| rs12302672 | 1.00[AMR][1000 genomes] |
| rs12304677 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12306042 | 1.00[AMR][1000 genomes] |
| rs12312239 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12316618 | 0.87[AFR][1000 genomes] |
| rs12319220 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs17123500 | 1.00[AMR][1000 genomes] |
| rs60145703 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73364880 | 0.87[AFR][1000 genomes] |
| rs73368995 | 1.00[AMR][1000 genomes] |
| rs7957218 | 1.00[AMR][1000 genomes] |
| rs7972243 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | 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 |
| 2 | nsv899137 | chr12:60568891-60797083 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1054287 | chr12:60601870-60861866 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 4 | esv2754064 | chr12:60608389-60645117 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60599600-60645400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
