Variant report
| Variant | rs10947757 |
|---|---|
| Chromosome Location | chr6:38678653-38678654 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr6:38678623-38678899 | HepG2 | liver: | n/a | chr6:38678758-38678772 chr6:38678759-38678775 chr6:38678759-38678770 chr6:38678759-38678774 chr6:38678759-38678770 chr6:38678760-38678771 chr6:38678762-38678779 |
| 2 | MAFK | chr6:38678611-38678940 | HepG2 | liver: | n/a | chr6:38678758-38678772 chr6:38678759-38678775 chr6:38678759-38678770 chr6:38678759-38678774 chr6:38678759-38678770 chr6:38678760-38678771 chr6:38678762-38678779 |
| 3 | RUNX3 | chr6:38678498-38678790 | GM12878 | blood: | n/a | n/a |
| 4 | MAFF | chr6:38678625-38678933 | HepG2 | liver: | n/a | chr6:38678757-38678775 |
| 5 | KAP1 | chr6:38678003-38678664 | K562 | blood: | n/a | n/a |
| 6 | RUNX3 | chr6:38678479-38678843 | GM12878 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:38671655..38673667-chr6:38677142..38679231,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| DNAH8 | TF binding region |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs1130534 | 0.86[ASN][1000 genomes] |
| rs1579028 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1621483 | 0.81[ASN][1000 genomes] |
| rs4711556 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs57156564 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs58749921 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60262339 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6932648 | 0.87[ASN][1000 genomes] |
| rs7774234 | 0.95[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9369075 | 0.86[ASN][1000 genomes] |
| rs9394522 | 0.82[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs9394523 | 0.87[ASN][1000 genomes] |
| rs9394524 | 0.87[ASN][1000 genomes] |
| rs9462451 | 0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9462453 | 0.84[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9470917 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9470918 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1021991 | chr6:37893949-38738720 | Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv885817 | chr6:38036420-39019503 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 3 | esv2758049 | chr6:38588969-38711085 | Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
| 4 | esv2759421 | chr6:38588969-38711085 | Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
| 5 | nsv427754 | chr6:38588969-38711085 | Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
| 6 | nsv428144 | chr6:38588969-38711085 | Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
| 7 | nsv830642 | chr6:38645056-38800657 | Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:38678200-38679200 | ZNF genes & repeats | GM12878-XiMat | blood |
