Variant report
| Variant | rs380272 |
|---|---|
| Chromosome Location | chr21:15583332-15583333 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr21:15583181-15583510 | SK-N-MC | brain: | n/a | n/a |
| 2 | KAT2A | chr21:15583211-15583452 | GM12878 | blood: | n/a | n/a |
| 3 | GTF2F1 | chr21:15583242-15583436 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 4 | POLR2A | chr21:15583096-15583360 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 5 | POLR2A | chr21:15583089-15583487 | SK-N-MC | brain: | n/a | n/a |
| 6 | TAF7 | chr21:15583032-15583420 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 7 | TBP | chr21:15583214-15583472 | H1-hESC | embryonic stem cell: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| LIPI | TF binding region |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs17001381 | 0.95[AFR][1000 genomes] |
| rs366677 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs369229 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs371195 | 0.84[EUR][1000 genomes] |
| rs375651 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs397949 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs431859 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs437808 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs440287 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs451665 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73164225 | 0.85[EUR][1000 genomes];0.88[ASN][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 | nsv1058202 | chr21:14706767-15628668 | Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv869466 | chr21:15482572-15683385 | Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv913402 | chr21:15545350-15606128 | Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv1056588 | chr21:15583231-15615520 | Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
