Variant report
| Variant | rs72651165 |
|---|---|
| Chromosome Location | chr8:54149099-54149100 |
| allele | C/T |
| 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 | chr8:54147248..54149206-chr8:54604109..54606269,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10958350 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12675595 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12677359 | 0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12677400 | 0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12682009 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs16918941 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs62505374 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs62505376 | 1.00[ASN][1000 genomes] |
| rs62505377 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62505378 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62505379 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62505380 | 1.00[ASN][1000 genomes] |
| rs62505381 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62505382 | 0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs62505384 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs62505385 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs62505387 | 0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs62505417 | 0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs6651352 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6651353 | 0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7016778 | 1.00[ASN][1000 genomes] |
| rs72651164 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1016224 | chr8:53719941-54367534 | Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv530534 | chr8:53787984-54367353 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | esv3377304 | chr8:53873441-54380875 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:54132000-54149400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr8:54149000-54151600 | Weak transcription | H9 Cell Line | embryonic stem cell |
