Variant report
| Variant | rs12232965 |
|---|---|
| Chromosome Location | chr2:33954560-33954561 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EBF1 | chr2:33954483-33954634 | GM12878 | blood: | n/a | chr2:33954507-33954518 chr2:33954523-33954534 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MYADML | TF binding region |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs11684598 | 0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12988770 | 0.83[EUR][1000 genomes] |
| rs13020348 | 0.80[EUR][1000 genomes] |
| rs1448551 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs17247505 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs4670914 | 1.00[ASN][1000 genomes] |
| rs59792754 | 0.82[EUR][1000 genomes] |
| rs6750177 | 0.83[EUR][1000 genomes] |
| rs7574695 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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 | esv3350238 | chr2:33849408-33979026 | Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv873793 | chr2:33936701-33988173 | Weak transcription Enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
| 3 | nsv873794 | chr2:33936701-34103546 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv873795 | chr2:33939941-34064746 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv214925 | chr2:33951155-33959435 | Enhancers ZNF genes & repeats Weak transcription | TF binding regionCpG island | 1 gene(s) | inside rSNPs | n/a |
| 6 | nsv873796 | chr2:33953186-33981501 | Enhancers ZNF genes & repeats Weak transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
