Variant report
| Variant | rs72762245 |
|---|---|
| Chromosome Location | chr5:54227642-54227643 |
| allele | A/C |
| 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 | chr5:54224711..54226545-chr5:54227369..54230054,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs1867688 | 1.00[ASN][1000 genomes] |
| rs2112940 | 1.00[ASN][1000 genomes] |
| rs56020939 | 1.00[ASN][1000 genomes] |
| rs72757433 | 1.00[ASN][1000 genomes] |
| rs72757436 | 1.00[ASN][1000 genomes] |
| rs72757442 | 1.00[ASN][1000 genomes] |
| rs72760125 | 1.00[AFR][1000 genomes] |
| rs72760135 | 1.00[AFR][1000 genomes] |
| rs72760143 | 1.00[AFR][1000 genomes] |
| rs72760147 | 1.00[AFR][1000 genomes] |
| rs72760150 | 1.00[AFR][1000 genomes] |
| rs72760157 | 1.00[AFR][1000 genomes] |
| rs72762213 | 1.00[AFR][1000 genomes] |
| rs72762218 | 1.00[AFR][1000 genomes] |
| rs72762223 | 1.00[ASN][1000 genomes] |
| rs72762225 | 1.00[ASN][1000 genomes] |
| rs72764143 | 1.00[ASN][1000 genomes] |
| rs73755284 | 1.00[AFR][1000 genomes] |
| rs7449307 | 1.00[AFR][1000 genomes] |
| rs7714829 | 1.00[ASN][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 | nsv830300 | chr5:54056300-54257344 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv830301 | chr5:54225874-54423505 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:54226000-54228600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
