Variant report
| Variant | rs466783 |
|---|---|
| Chromosome Location | chr21:16018390-16018391 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | TRIM28 | chr21:16017956-16018397 | K562 | blood: | n/a | n/a |
| 2 | CBX3 | chr21:16018036-16018407 | K562 | blood: | n/a | n/a |
| 3 | KAP1 | chr21:16017816-16018562 | K562 | blood: | n/a | n/a |
| 4 | JUN | chr21:16017983-16018487 | K562 | blood: | n/a | n/a |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000243440 | TF binding region |
| ENSG00000243440 | Chromatin interaction |
| ENSG00000155307 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs12162546 | 0.80[ASN][1000 genomes] |
| rs1292587 | 0.84[AFR][1000 genomes];0.83[ASN][1000 genomes] |
| rs13052089 | 0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1977016 | 0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2822809 | 0.80[ASN][1000 genomes] |
| rs401697 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs411100 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs439328 | 0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs443647 | 0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs456872 | 0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs457188 | 0.80[ASN][1000 genomes] |
| rs458711 | 0.80[AMR][1000 genomes];0.86[ASN][1000 genomes] |
| rs461178 | 0.80[ASN][1000 genomes] |
| rs465122 | 0.80[ASN][1000 genomes] |
| rs7277303 | 0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | nsv834045 | chr21:15900678-16112850 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv834046 | chr21:15903792-16077369 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv3457 | chr21:15996855-16042349 | Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
