Variant report
| Variant | rs5994361 |
|---|---|
| Chromosome Location | chr22:31416751-31416752 |
| 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 | chr22:31416610..31418560-chr22:31480081..31482037,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000183963 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs12158241 | 1.00[AMR][1000 genomes] |
| rs12158547 | 1.00[AMR][1000 genomes] |
| rs12159387 | 1.00[AMR][1000 genomes] |
| rs12160041 | 1.00[AMR][1000 genomes] |
| rs12160446 | 1.00[AMR][1000 genomes] |
| rs12160613 | 1.00[AMR][1000 genomes] |
| rs12161052 | 1.00[AMR][1000 genomes] |
| rs13056417 | 1.00[AMR][1000 genomes] |
| rs5994354 | 1.00[AMR][1000 genomes] |
| rs5994355 | 1.00[AMR][1000 genomes] |
| rs5994359 | 1.00[AMR][1000 genomes] |
| rs5997801 | 1.00[AMR][1000 genomes] |
| rs5997804 | 1.00[AMR][1000 genomes] |
| rs5997805 | 1.00[AMR][1000 genomes] |
| rs5997809 | 1.00[AMR][1000 genomes] |
| rs5997813 | 1.00[AMR][1000 genomes] |
| rs5997814 | 1.00[AMR][1000 genomes] |
| rs5997815 | 1.00[AMR][1000 genomes] |
| rs5997816 | 1.00[AMR][1000 genomes] |
| rs5997817 | 1.00[AMR][1000 genomes] |
| rs5997819 | 1.00[AMR][1000 genomes] |
| rs5997825 | 1.00[AMR][1000 genomes] |
| rs5997826 | 1.00[AMR][1000 genomes] |
| rs5997827 | 1.00[AMR][1000 genomes] |
| rs5997828 | 1.00[AMR][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 | nsv9896 | chr22:31369204-31513933 | Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv966103 | chr22:31410201-31452981 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:31415200-31417200 | Enhancers | HepG2 | liver |
| 2 | chr22:31416200-31417200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
