Variant report
| Variant | rs59520922 |
|---|---|
| Chromosome Location | chr2:86658306-86658307 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:86651972..86654553-chr2:86657409..86659896,2 | MCF-7 | breast: | |
| 2 | chr2:86655918..86658314-chr2:86666363..86668991,3 | MCF-7 | breast: | |
| 3 | chr2:86651786..86653739-chr2:86656746..86658439,2 | K562 | blood: | |
| 4 | chr2:86657770..86661347-chr2:86665194..86668808,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115548 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10179968 | 1.00[AMR][1000 genomes] |
| rs10192729 | 1.00[AMR][1000 genomes] |
| rs10496321 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs13394211 | 1.00[AMR][1000 genomes] |
| rs13427212 | 1.00[AMR][1000 genomes] |
| rs1607448 | 1.00[AMR][1000 genomes] |
| rs17027161 | 1.00[AMR][1000 genomes] |
| rs55645731 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs56301854 | 1.00[AMR][1000 genomes] |
| rs58382371 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs60391171 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6721311 | 0.83[AMR][1000 genomes] |
| rs73945284 | 1.00[AMR][1000 genomes] |
| rs73945285 | 1.00[AMR][1000 genomes] |
| rs73945286 | 1.00[AMR][1000 genomes] |
| rs73945298 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73945300 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73946205 | 1.00[AMR][1000 genomes] |
| rs73946210 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73946213 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73946224 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73947226 | 1.00[AMR][1000 genomes] |
| rs73949508 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73949836 | 1.00[AMR][1000 genomes] |
| rs73949841 | 1.00[AMR][1000 genomes] |
| rs73949843 | 0.83[AMR][1000 genomes] |
| rs7600275 | 1.00[AMR][1000 genomes] |
| rs7609052 | 0.83[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | esv3412938 | chr2:86370969-86867936 | Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 77 gene(s) | inside rSNPs | diseases |
| 2 | nsv532724 | chr2:86622295-87086407 | Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:86654000-86664400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
