Variant report
| Variant | rs60911685 |
|---|---|
| Chromosome Location | chr1:216599560-216599561 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | E2F4 | chr1:216599439-216599866 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| USH2A | TF binding region |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11572782 | 1.00[AMR][1000 genomes] |
| rs55703184 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57453973 | 1.00[AMR][1000 genomes] |
| rs58566372 | 1.00[AMR][1000 genomes] |
| rs60059978 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74141523 | 1.00[AMR][1000 genomes] |
| rs74141528 | 1.00[AMR][1000 genomes] |
| rs74141553 | 1.00[AMR][1000 genomes] |
| rs74141574 | 1.00[AMR][1000 genomes] |
| rs74141577 | 1.00[AMR][1000 genomes] |
| rs74141602 | 1.00[AMR][1000 genomes] |
| rs74143404 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74143411 | 1.00[AMR][1000 genomes] |
| rs74143412 | 1.00[AMR][1000 genomes] |
| rs74143414 | 1.00[AMR][1000 genomes] |
| rs74143415 | 1.00[AMR][1000 genomes] |
| rs74143417 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1006504 | chr1:215890460-216642124 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv535288 | chr1:215890460-216642124 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv549199 | chr1:216384908-216814702 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1003815 | chr1:216504235-216836498 | Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 5 | nsv535289 | chr1:216504235-216836498 | Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 6 | nsv523863 | chr1:216517635-216629416 | Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:216597000-216601200 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 2 | chr1:216599400-216606800 | Weak transcription | Liver | Liver |
