Variant report
| Variant | rs5994567 |
|---|---|
| Chromosome Location | chr22:32818751-32818752 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr22:32806869..32809842-chr22:32816444..32820069,3 | MCF-7 | breast: | |
| 2 | chr22:32813930..32815721-chr22:32818437..32821408,3 | K562 | blood: | |
| 3 | chr22:32806674..32809843-chr22:32815154..32819369,3 | K562 | blood: | |
| 4 | chr22:32818703..32822540-chr22:32869209..32873188,4 | K562 | blood: | |
| 5 | chr22:32807581..32809843-chr22:32816573..32819369,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000100220 | Chromatin interaction |
| ENSG00000100225 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs10222228 | 0.89[AMR][1000 genomes] |
| rs11089563 | 0.89[AMR][1000 genomes] |
| rs12166739 | 0.90[AMR][1000 genomes] |
| rs12167313 | 0.89[AMR][1000 genomes] |
| rs16990372 | 0.81[AMR][1000 genomes] |
| rs5998480 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9621437 | 0.81[AMR][1000 genomes] |
| rs9621438 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs9621440 | 1.00[AMR][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 | nsv459874 | chr22:32574274-32866934 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 2 | nsv588895 | chr22:32574274-32866934 | Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv1064737 | chr22:32603912-32829725 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 38 gene(s) | inside rSNPs | diseases |
| 4 | nsv1055701 | chr22:32806595-32845403 | Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
