Variant report
| Variant | rs11988252 |
|---|---|
| Chromosome Location | chr8:117893948-117893949 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000164754 | Chromatin interaction |
| ENSG00000264875 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs11984783 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11986244 | 1.00[AMR][1000 genomes] |
| rs11988890 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11992843 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11993461 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11995008 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11996899 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11998115 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16888867 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16888873 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16888957 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16888968 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16888995 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16889027 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16889103 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16889160 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs17435839 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs34316616 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58084260 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61637286 | 0.89[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 | nsv530386 | chr8:117509968-118391406 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 37 gene(s) | inside rSNPs | diseases |
| 2 | nsv831434 | chr8:117784467-117977825 | Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
| 3 | nsv891407 | chr8:117881393-117895239 | Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 15 gene(s) | inside rSNPs | diseases |
| 4 | nsv891408 | chr8:117884270-117895239 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 15 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:117893600-117896800 | Enhancers | Dnd41 | blood |
