Variant report
| Variant | rs73323250 |
|---|---|
| Chromosome Location | chr12:62855778-62855779 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | STAT3 | chr12:62855682-62855832 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MON2 | TF binding region |
| ENSG00000061987 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11835000 | 1.00[EUR][1000 genomes] |
| rs59663650 | 1.00[EUR][1000 genomes] |
| rs61562268 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73310406 | 1.00[EUR][1000 genomes] |
| rs73310429 | 1.00[EUR][1000 genomes] |
| rs73319549 | 1.00[EUR][1000 genomes] |
| rs73319579 | 1.00[EUR][1000 genomes] |
| rs73319581 | 1.00[EUR][1000 genomes] |
| rs73321560 | 1.00[EUR][1000 genomes] |
| rs73321575 | 1.00[EUR][1000 genomes] |
| rs73321578 | 1.00[EUR][1000 genomes] |
| rs73321591 | 1.00[EUR][1000 genomes] |
| rs73321596 | 1.00[EUR][1000 genomes] |
| rs73323292 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73323300 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73325240 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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 | nsv530690 | chr12:62678463-62999462 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 54 gene(s) | inside rSNPs | diseases |
| 2 | nsv899158 | chr12:62783967-62937259 | Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 10 gene(s) | inside rSNPs | diseases |
| 3 | nsv899159 | chr12:62783967-62945245 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
| 4 | nsv821671 | chr12:62794304-63007964 | Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 53 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:62853600-62860000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
