Variant report
| Variant | rs62512680 |
|---|---|
| Chromosome Location | chr8:117828881-117828882 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:117827651..117829253-chr8:117830596..117833306,2 | K562 | blood: | |
| 2 | chr8:117823218..117824824-chr8:117826875..117829516,2 | K562 | blood: | |
| 3 | chr8:117821087..117823936-chr8:117828583..117831214,3 | K562 | blood: | |
| 4 | chr8:117826321..117829062-chr8:117831572..117834580,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs12548062 | 0.92[ASN][1000 genomes] |
| rs17811822 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35189908 | 0.81[ASN][1000 genomes] |
| rs62510235 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs62510236 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs62512681 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62512682 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62512683 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62512686 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73308285 | 0.95[ASN][1000 genomes] |
| rs73308288 | 0.90[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| 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 | nsv1027259 | chr8:117790928-117842055 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS | Chromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1034015 | chr8:117790928-117843979 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS | Chromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 5 | esv3521567 | chr8:117828050-117830508 | Weak transcription ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | esv3521568 | chr8:117828050-117830508 | ZNF genes & repeats Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:117780400-117830200 | Weak transcription | Aorta | Aorta |
