Variant report
| Variant | rs12305769 |
|---|---|
| Chromosome Location | chr12:55984226-55984227 |
| allele | A/C |
| 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 | FOXA1 | chr12:55984062-55984437 | HepG2 | liver: | n/a | n/a |
| 2 | TAF1 | chr12:55983916-55984248 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 3 | POLR2A | chr12:55983719-55984497 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 4 | FOXA2 | chr12:55983994-55984519 | A549 | lung: | n/a | n/a |
| 5 | FOXA2 | chr12:55984053-55984326 | A549 | lung: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258763 | TF binding region |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10161247 | 1.00[EUR][1000 genomes] |
| rs10876831 | 1.00[EUR][1000 genomes] |
| rs11171612 | 1.00[EUR][1000 genomes] |
| rs11171621 | 1.00[EUR][1000 genomes] |
| rs11171622 | 1.00[EUR][1000 genomes] |
| rs11171643 | 1.00[EUR][1000 genomes] |
| rs11171645 | 1.00[EUR][1000 genomes] |
| rs12299176 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12301775 | 1.00[EUR][1000 genomes] |
| rs12303548 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12306327 | 1.00[EUR][1000 genomes] |
| rs12313844 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12313935 | 1.00[EUR][1000 genomes] |
| rs12314803 | 1.00[EUR][1000 genomes] |
| rs12578161 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12580351 | 0.84[ASN][1000 genomes] |
| rs12580355 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs17120033 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs17120045 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs36194114 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7973424 | 1.00[EUR][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 | nsv559001 | chr12:55507465-56057708 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 45 gene(s) | inside rSNPs | diseases |
| 2 | nsv832422 | chr12:55832210-56001052 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv948625 | chr12:55838718-56118833 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
| 4 | nsv973201 | chr12:55974291-56000681 | Weak transcription Active TSS Strong transcription | TF binding regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
