Variant report
| Variant | rs72917248 |
|---|---|
| Chromosome Location | chr4:124989349-124989350 |
| 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 | chr4:124981418..124984349-chr4:124987822..124990040,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000250484 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs12506716 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58998147 | 1.00[AMR][1000 genomes] |
| rs72915192 | 1.00[AMR][1000 genomes] |
| rs72915197 | 1.00[AMR][1000 genomes] |
| rs72917203 | 1.00[AMR][1000 genomes] |
| rs72917208 | 1.00[AMR][1000 genomes] |
| rs72917214 | 1.00[AMR][1000 genomes] |
| rs72917242 | 1.00[AMR][1000 genomes] |
| rs72917250 | 1.00[AMR][1000 genomes] |
| rs72917253 | 1.00[AMR][1000 genomes] |
| rs72917257 | 1.00[AMR][1000 genomes] |
| rs72917260 | 1.00[AMR][1000 genomes] |
| rs72917266 | 1.00[AMR][1000 genomes] |
| rs72917269 | 1.00[AMR][1000 genomes] |
| rs72917272 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs72917287 | 1.00[AMR][1000 genomes] |
| rs72917296 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv34581 | chr4:124271321-125247395 | Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 2 | nsv868977 | chr4:124841128-125550637 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 3 | nsv1014750 | chr4:124966525-125111807 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv1000839 | chr4:124966525-125115590 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:124982800-125000800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
