Variant report
| Variant | rs4599026 |
|---|---|
| Chromosome Location | chr19:44547480-44547481 |
| 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 | chr19:44547423..44549479-chr19:44550540..44552495,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs11667318 | 1.00[EUR][1000 genomes] |
| rs11672570 | 0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12327743 | 1.00[EUR][1000 genomes] |
| rs16976952 | 1.00[EUR][1000 genomes] |
| rs16976959 | 1.00[EUR][1000 genomes] |
| rs16978634 | 1.00[EUR][1000 genomes] |
| rs35026751 | 1.00[EUR][1000 genomes] |
| rs378598 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs424147 | 1.00[EUR][1000 genomes] |
| rs430107 | 1.00[EUR][1000 genomes] |
| rs57574350 | 1.00[EUR][1000 genomes] |
| rs58379185 | 1.00[EUR][1000 genomes] |
| rs59955744 | 1.00[EUR][1000 genomes] |
| rs61254478 | 1.00[EUR][1000 genomes] |
| rs7260087 | 0.81[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73567700 | 1.00[EUR][1000 genomes] |
| rs73569807 | 1.00[EUR][1000 genomes] |
| rs73569826 | 1.00[EUR][1000 genomes] |
| rs73569841 | 1.00[EUR][1000 genomes] |
| rs8110949 | 1.00[EUR][1000 genomes] |
| rs8112679 | 1.00[EUR][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 | nsv469650 | chr19:44405994-44555426 | Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv833840 | chr19:44520620-44715760 | Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:44546600-44547600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
