Variant report
| Variant | rs2730717 |
|---|---|
| Chromosome Location | chr12:119088378-119088379 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | NFYB | chr12:119088283-119088795 | K562 | blood: | n/a | n/a |
| 2 | USF1 | chr12:119088333-119088716 | K562 | blood: | n/a | n/a |
| 3 | NFYA | chr12:119088316-119088707 | K562 | blood: | n/a | chr12:119088527-119088545 chr12:119088567-119088585 |
| 4 | NFYB | chr12:119088349-119088716 | GM12878 | blood: | n/a | n/a |
| 5 | MYC | chr12:119087954-119088551 | K562 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000255714 | TF binding region |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs10851014 | 0.83[ASN][1000 genomes] |
| rs10851016 | 0.83[ASN][1000 genomes] |
| rs11069040 | 0.80[ASN][1000 genomes] |
| rs11069049 | 0.83[ASN][1000 genomes] |
| rs11069051 | 0.83[ASN][1000 genomes] |
| rs2002469 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2222335 | 0.84[ASN][1000 genomes] |
| rs2249042 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2649959 | 0.86[EUR][1000 genomes] |
| rs2649960 | 0.87[AMR][1000 genomes] |
| rs2730709 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2730710 | 0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2730750 | 0.85[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv930978 | chr12:118866332-119450600 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv1039515 | chr12:119085196-119218918 | ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
