Variant report
| Variant | rs131215 |
|---|---|
| Chromosome Location | chr22:31755490-31755491 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr22:31741315..31744300-chr22:31752063..31756398,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000100105 | Chromatin interaction |
| ENSG00000213888 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs131204 | 1.00[AFR][1000 genomes] |
| rs131206 | 1.00[AFR][1000 genomes] |
| rs131208 | 1.00[AFR][1000 genomes] |
| rs131218 | 0.81[AFR][1000 genomes] |
| rs140071 | 1.00[AFR][1000 genomes] |
| rs140073 | 1.00[AFR][1000 genomes] |
| rs140075 | 1.00[AFR][1000 genomes] |
| rs4820047 | 1.00[AFR][1000 genomes] |
| rs5753598 | 1.00[AFR][1000 genomes] |
| rs5997967 | 1.00[AFR][1000 genomes] |
| rs695257 | 1.00[AFR][1000 genomes] |
| rs695615 | 1.00[AFR][1000 genomes] |
| rs695692 | 1.00[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv834176 | chr22:31682426-31864701 | Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 52 gene(s) | inside rSNPs | diseases |
| 2 | esv3333136 | chr22:31704947-31758417 | Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 3 | esv1816779 | chr22:31743711-31797094 | Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 13 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:31744000-31762200 | Weak transcription | Right Atrium | heart |
