Variant report
| Variant | rs57483258 |
|---|---|
| Chromosome Location | chr17:45876379-45876380 |
| 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 | chr17:45875238..45877817-chr17:48942331..48944985,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000229980 | Chromatin interaction |
| ENSG00000141232 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs56239340 | 1.00[EUR][1000 genomes] |
| rs7225277 | 1.00[EUR][1000 genomes] |
| rs73319718 | 1.00[EUR][1000 genomes] |
| rs73985186 | 1.00[EUR][1000 genomes] |
| rs73985189 | 1.00[EUR][1000 genomes] |
| rs73988809 | 1.00[EUR][1000 genomes] |
| rs73988811 | 1.00[EUR][1000 genomes] |
| rs73988823 | 1.00[EUR][1000 genomes] |
| rs73988830 | 1.00[EUR][1000 genomes] |
| rs73988840 | 1.00[EUR][1000 genomes] |
| rs73988847 | 1.00[EUR][1000 genomes] |
| rs73988853 | 1.00[EUR][1000 genomes] |
| rs8066161 | 1.00[EUR][1000 genomes] |
| rs8075483 | 1.00[EUR][1000 genomes] |
| rs9675329 | 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 | nsv498122 | chr17:45763853-46064327 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 67 gene(s) | inside rSNPs | diseases |
| 2 | nsv908572 | chr17:45858487-45900856 | Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv908573 | chr17:45858487-45956073 | Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 4 | nsv908574 | chr17:45876022-45930584 | Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr17:45876200-45883800 | Weak transcription | Duodenum Mucosa | Duodenum |
