Variant report
| Variant | rs55931991 |
|---|---|
| Chromosome Location | chr12:62623119-62623120 |
| 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 | chr12:62621413..62623130-chr12:62628010..62629686,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258316 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs11609226 | 0.85[EUR][1000 genomes] |
| rs11609261 | 0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11615656 | 0.98[EUR][1000 genomes] |
| rs11615916 | 1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17659212 | 0.98[EUR][1000 genomes] |
| rs17715440 | 0.86[ASN][1000 genomes] |
| rs56131858 | 1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs60968357 | 0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs7139338 | 0.95[EUR][1000 genomes] |
| rs7296903 | 0.98[EUR][1000 genomes] |
| rs7308137 | 0.95[EUR][1000 genomes] |
| rs73130001 | 0.86[ASN][1000 genomes] |
| rs73131805 | 0.86[ASN][1000 genomes] |
| rs73131832 | 0.86[ASN][1000 genomes] |
| rs73131836 | 0.85[EUR][1000 genomes] |
| rs73133475 | 0.88[EUR][1000 genomes] |
| rs73133481 | 0.89[EUR][1000 genomes] |
| rs73133484 | 0.98[EUR][1000 genomes] |
| rs73135204 | 0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs73135207 | 0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs73135222 | 0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1035150 | chr12:62615347-62785005 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
