Variant report
| Variant | rs73333429 |
|---|---|
| Chromosome Location | chr5:126100276-126100277 |
| 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 | chr5:126089250..126100296-chr5:126109758..126119075,20 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000113368 | Chromatin interaction |
| ENSG00000251072 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs56893573 | 1.00[AMR][1000 genomes] |
| rs57813213 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs59087318 | 1.00[AMR][1000 genomes] |
| rs61089732 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61548555 | 1.00[AMR][1000 genomes] |
| rs61661009 | 1.00[AMR][1000 genomes] |
| rs73333414 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333419 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333420 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333425 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333427 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333434 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333442 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333443 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333449 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333453 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333456 | 1.00[AMR][1000 genomes] |
| rs73333460 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333464 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333466 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73333497 | 1.00[AMR][1000 genomes] |
| rs7731899 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7731916 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7732208 | 1.00[AFR][1000 genomes];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 | nsv949054 | chr5:125918148-126254480 | Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 44 gene(s) | inside rSNPs | diseases |
| 2 | nsv534292 | chr5:125993451-126259315 | Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription 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 regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:126098800-126102200 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 2 | chr5:126099400-126104600 | Weak transcription | GM12878-XiMat | blood |
