Variant report
| Variant | rs2476029 |
|---|---|
| Chromosome Location | chr13:53687150-53687151 |
| allele | C/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 | chr13:53685373..53687823-chr13:53688675..53690825,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1909649 | 1.00[AMR][1000 genomes] |
| rs2759673 | 1.00[AMR][1000 genomes] |
| rs2759689 | 1.00[AMR][1000 genomes] |
| rs2759693 | 0.87[AFR][1000 genomes] |
| rs2759695 | 1.00[AFR][1000 genomes] |
| rs2759699 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2759702 | 1.00[AMR][1000 genomes] |
| rs2759707 | 1.00[AMR][1000 genomes] |
| rs2759711 | 1.00[AMR][1000 genomes] |
| rs2806927 | 1.00[AMR][1000 genomes] |
| rs2806945 | 1.00[AMR][1000 genomes] |
| rs2806958 | 1.00[AMR][1000 genomes] |
| rs2806959 | 1.00[AMR][1000 genomes] |
| rs2806983 | 1.00[AMR][1000 genomes] |
| rs2806986 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2806987 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2806991 | 0.87[AFR][1000 genomes] |
| rs58728397 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv832613 | chr13:53524319-53687188 | Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1050969 | chr13:53665927-54064861 | Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:53681800-53695000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
