Variant report
| Variant | rs7836594 |
|---|---|
| Chromosome Location | chr8:112753183-112753184 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:112753150..112755193-chr8:112756669..112758806,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254262 | TF binding region |
| ENSG00000254262 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11988502 | 0.90[EUR][1000 genomes] |
| rs11997292 | 0.80[AFR][1000 genomes];0.81[EUR][1000 genomes] |
| rs11998070 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs11998601 | 0.90[AFR][1000 genomes];0.81[EUR][1000 genomes] |
| rs34195107 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs57050311 | 0.96[AFR][1000 genomes];0.90[EUR][1000 genomes] |
| rs6982374 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs73336368 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs73336401 | 0.96[AFR][1000 genomes];0.90[EUR][1000 genomes] |
| rs73338307 | 0.81[EUR][1000 genomes] |
| rs73338319 | 0.81[EUR][1000 genomes] |
| rs7836329 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs7838629 | 0.81[EUR][1000 genomes] |
| rs7843079 | 0.96[AFR][1000 genomes];0.90[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1027070 | chr8:112490160-112844323 | Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1015355 | chr8:112558586-113154605 | Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv539722 | chr8:112558586-113154605 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv611905 | chr8:112735588-112791866 | Enhancers Active TSS ZNF genes & repeats Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv611906 | chr8:112752967-112803755 | Enhancers Weak transcription ZNF genes & repeats Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:112751400-112753400 | Enhancers | Rectal Mucosa Donor 31 | rectum |
| 2 | chr8:112752400-112753200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
