Variant report
| Variant | rs28899479 |
|---|---|
| Chromosome Location | chr2:234692053-234692054 |
| allele | C/T |
| 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 | 2:234683624-234705119..2:234772667-234780240 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000224287 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs17863803 | 1.00[YRI][hapmap];0.94[AFR][1000 genomes] |
| rs28898571 | 1.00[EUR][1000 genomes] |
| rs28898573 | 1.00[EUR][1000 genomes] |
| rs28898598 | 1.00[EUR][1000 genomes] |
| rs28899474 | 0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs28900378 | 1.00[EUR][1000 genomes] |
| rs28900380 | 1.00[EUR][1000 genomes] |
| rs28900396 | 1.00[EUR][1000 genomes] |
| rs28968515 | 1.00[EUR][1000 genomes] |
| rs28969703 | 1.00[EUR][1000 genomes] |
| rs28969712 | 1.00[EUR][1000 genomes] |
| rs28969974 | 1.00[EUR][1000 genomes] |
| rs28970005 | 1.00[EUR][1000 genomes] |
| rs28970006 | 1.00[EUR][1000 genomes] |
| rs28970014 | 1.00[EUR][1000 genomes] |
| rs28970015 | 1.00[EUR][1000 genomes] |
| rs34652311 | 1.00[EUR][1000 genomes] |
| rs45498701 | 1.00[EUR][1000 genomes] |
| rs45505392 | 1.00[EUR][1000 genomes] |
| rs45548336 | 1.00[EUR][1000 genomes] |
| rs45568235 | 1.00[EUR][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 | nsv1013712 | chr2:234558457-235495825 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
| 2 | nsv532476 | chr2:234595695-235134381 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 37 gene(s) | inside rSNPs | diseases |
| 3 | esv1811811 | chr2:234633964-234709430 | Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 4 | nsv527330 | chr2:234688036-234702905 | Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
