Variant report
| Variant | rs73789549 |
|---|---|
| Chromosome Location | chr5:111180503-111180504 |
| 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 | chr5:111178783..111180679-chr5:111183936..111185485,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs58377570 | 1.00[AFR][1000 genomes];0.89[EUR][1000 genomes] |
| rs73787310 | 0.86[AFR][1000 genomes] |
| rs73787313 | 0.86[AFR][1000 genomes] |
| rs73787315 | 0.86[AFR][1000 genomes] |
| rs73787338 | 0.86[AFR][1000 genomes] |
| rs73787339 | 0.86[AFR][1000 genomes] |
| rs73787340 | 0.86[AFR][1000 genomes] |
| rs73787341 | 0.86[AFR][1000 genomes] |
| rs73787350 | 0.86[AFR][1000 genomes] |
| rs73787351 | 0.86[AFR][1000 genomes] |
| rs73787358 | 0.86[AFR][1000 genomes] |
| rs73787362 | 0.86[AFR][1000 genomes] |
| rs73787367 | 0.86[AFR][1000 genomes] |
| rs73787746 | 0.83[AFR][1000 genomes] |
| rs73787751 | 1.00[AFR][1000 genomes] |
| rs73789520 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73789552 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv599367 | chr5:110924280-111602713 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv882711 | chr5:111116271-111185325 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv882712 | chr5:111116271-111233084 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:111172600-111182800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
