Variant report
| Variant | rs312518 |
|---|---|
| Chromosome Location | chr4:125431455-125431456 |
| 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 | chr4:125429271..125431802-chr4:125432330..125434572,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10019535 | 0.92[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs10029005 | 0.86[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs10034765 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs10050220 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs101927 | 0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11937064 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs13124572 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1509523 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1509526 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1509527 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1907812 | 0.94[CHB][hapmap] |
| rs2131321 | 0.81[CHB][hapmap] |
| rs312489 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs312493 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs312494 | 0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs312496 | 0.86[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs312497 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs312498 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs312504 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs312509 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4340804 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4367185 | 0.86[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs56003248 | 0.86[EUR][1000 genomes];0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv868977 | chr4:124841128-125550637 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv879880 | chr4:125174817-125494547 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | esv2760890 | chr4:125273456-125466931 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv879881 | chr4:125280852-125448288 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:125430800-125437600 | Weak transcription | Liver | Liver |
