Variant report
| Variant | rs17008198 |
|---|---|
| Chromosome Location | chr4:120885257-120885258 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:4)
- 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 | chr4:120883690..120886191-chr4:120886858..120889545,2 | K562 | blood: |
(count:4 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-AC110373.1-5 | chr4:120884943-120885376 | ENSG00000250392.1 |
| 2 | lnc-AC110373.1-5 | chr4:120885151-120885352 | NONHSAT098110 |
| 3 | lnc-AC110373.1-5 | chr4:120884943-120885448 | ENSG00000250392.2 |
| 4 | lnc-AC110373.1-5 | chr4:120884943-120885385 | NONHSAT098107 |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs17008531 | 1.00[AMR][1000 genomes] |
| rs57577102 | 1.00[AMR][1000 genomes] |
| rs72684581 | 0.90[AFR][1000 genomes] |
| rs72684584 | 0.90[AFR][1000 genomes] |
| rs73842754 | 1.00[AMR][1000 genomes] |
| rs73842774 | 1.00[AMR][1000 genomes] |
| rs73842776 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73842777 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73842778 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73842781 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv532739 | chr4:120392824-121098103 | Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| 2 | nsv879849 | chr4:120823634-120922444 | Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1007641 | chr4:120884220-121555889 | Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
| 4 | nsv537234 | chr4:120884220-121555889 | Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:120883400-120903400 | Weak transcription | Left Ventricle | heart |
