Variant report
| Variant | rs12700804 |
|---|---|
| Chromosome Location | chr7:27443191-27443192 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 7:27238414-27242313..7:27439194-27449722 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000243766 | Chromatin interaction |
| ENSG00000106031 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs11563953 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs12700806 | 0.88[EUR][1000 genomes] |
| rs1541359 | 0.89[EUR][1000 genomes] |
| rs1554637 | 0.87[EUR][1000 genomes] |
| rs17429761 | 0.89[EUR][1000 genomes] |
| rs34924985 | 0.90[EUR][1000 genomes] |
| rs34989520 | 0.90[EUR][1000 genomes] |
| rs35240477 | 0.91[EUR][1000 genomes] |
| rs35468459 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs35713538 | 0.88[EUR][1000 genomes] |
| rs3915087 | 0.89[EUR][1000 genomes] |
| rs3915088 | 0.89[EUR][1000 genomes] |
| rs4722704 | 0.89[EUR][1000 genomes] |
| rs6958811 | 0.87[EUR][1000 genomes] |
| rs6970308 | 0.89[EUR][1000 genomes] |
| rs6979081 | 0.90[EUR][1000 genomes] |
| rs71539516 | 0.91[EUR][1000 genomes] |
| rs7784592 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs969410 | 0.90[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv531024 | chr7:27194426-27461954 | Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 148 gene(s) | inside rSNPs | diseases |
| 2 | nsv830930 | chr7:27395838-27587355 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
