Variant report
| Variant | rs60428496 |
|---|---|
| Chromosome Location | chr2:211357795-211357796 |
| 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 | chr2:211341728..211344856-chr2:211357164..211360434,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115365 | Chromatin interaction |
| ENSG00000021826 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:32)
| rs_ID | r2[population] |
|---|---|
| rs1468957 | 1.00[EUR][1000 genomes] |
| rs16844452 | 1.00[EUR][1000 genomes] |
| rs16844505 | 1.00[EUR][1000 genomes] |
| rs16844536 | 1.00[EUR][1000 genomes] |
| rs16844550 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16844551 | 1.00[EUR][1000 genomes] |
| rs16844579 | 1.00[EUR][1000 genomes] |
| rs16844625 | 1.00[EUR][1000 genomes] |
| rs2098502 | 1.00[EUR][1000 genomes] |
| rs4263061 | 1.00[EUR][1000 genomes] |
| rs59821750 | 1.00[EUR][1000 genomes] |
| rs60981818 | 1.00[EUR][1000 genomes] |
| rs61291087 | 1.00[EUR][1000 genomes] |
| rs6713369 | 1.00[EUR][1000 genomes] |
| rs6721139 | 1.00[EUR][1000 genomes] |
| rs6742717 | 1.00[EUR][1000 genomes] |
| rs6743023 | 1.00[EUR][1000 genomes] |
| rs6745362 | 1.00[EUR][1000 genomes] |
| rs73069742 | 1.00[EUR][1000 genomes] |
| rs73069777 | 1.00[EUR][1000 genomes] |
| rs73069798 | 1.00[EUR][1000 genomes] |
| rs73071716 | 1.00[EUR][1000 genomes] |
| rs73071719 | 1.00[EUR][1000 genomes] |
| rs73071732 | 1.00[EUR][1000 genomes] |
| rs73071736 | 1.00[EUR][1000 genomes] |
| rs73984617 | 1.00[EUR][1000 genomes] |
| rs7560638 | 1.00[EUR][1000 genomes] |
| rs7569730 | 1.00[EUR][1000 genomes] |
| rs7571548 | 1.00[EUR][1000 genomes] |
| rs7571893 | 1.00[EUR][1000 genomes] |
| rs7600777 | 1.00[EUR][1000 genomes] |
| rs7600898 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3398091 | chr2:211315261-211634200 | Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:211343400-211363600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr2:211352200-211361000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
