Variant report
| Variant | rs66871471 |
|---|---|
| Chromosome Location | chr7:12720608-12720609 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- 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 | GATA2 | chr7:12720376-12720726 | SH-SY5Y | brain: | n/a | chr7:12720596-12720605 chr7:12720595-12720605 |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:12717166..12722121-chr7:12722819..12730099,9 | K562 | blood: | |
| 2 | chr7:12719551..12722196-chr7:12724223..12726229,2 | MCF-7 | breast: | |
| 3 | chr7:12703819..12706185-chr7:12719994..12722321,2 | K562 | blood: | |
| 4 | chr16:30392469..30393303-chr7:12720172..12720899,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000271253 | TF binding region |
| ENSG00000271253 | Chromatin interaction |
| ENSG00000122644 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10279548 | 0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10279649 | 0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10280332 | 1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12540556 | 1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs35407540 | 1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3757443 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs67302850 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6944823 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053442 | 0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs73053448 | 1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs73053455 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053467 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053491 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053493 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053495 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053498 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73053502 | 0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1024554 | chr7:12214722-12967418 | Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 58 gene(s) | inside rSNPs | diseases |
| 2 | nsv538735 | chr7:12214722-12967418 | Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 58 gene(s) | inside rSNPs | diseases |
| 3 | nsv1017577 | chr7:12530491-12722947 | Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 4 | nsv830907 | chr7:12661239-12818250 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 5 | nsv932020 | chr7:12676890-13239551 | Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 6 | nsv830908 | chr7:12695007-12870475 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 7 | esv1794967 | chr7:12710385-12758624 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 37 gene(s) | inside rSNPs | n/a |
| 8 | nsv868830 | chr7:12712753-13517417 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:12718200-12723800 | Weak transcription | Placenta | Placenta |
| 2 | chr7:12720200-12722000 | Enhancers | HepG2 | liver |
