Variant report
| Variant | rs7302209 |
|---|---|
| Chromosome Location | chr12:48895384-48895385 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr12:48895037-48895446 | K562 | blood: | n/a | n/a |
| 2 | STAT3 | chr12:48895369-48895394 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258121 | TF binding region |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10875827 | 0.98[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs10875829 | 0.96[EUR][1000 genomes] |
| rs10875833 | 0.90[EUR][1000 genomes] |
| rs11168577 | 0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11168586 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11168599 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11168618 | 0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11168619 | 0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11168637 | 0.90[EUR][1000 genomes] |
| rs11458 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12371700 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12815544 | 0.90[EUR][1000 genomes] |
| rs2114322 | 0.89[EUR][1000 genomes] |
| rs2731091 | 0.85[ASN][1000 genomes] |
| rs2731094 | 0.85[ASN][1000 genomes] |
| rs2731095 | 0.85[ASN][1000 genomes] |
| rs2731097 | 0.84[ASN][1000 genomes] |
| rs2731107 | 0.85[ASN][1000 genomes] |
| rs35338015 | 0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4359253 | 0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs57444623 | 0.99[ASN][1000 genomes] |
| rs6580671 | 0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7955785 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7972785 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7974213 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7976324 | 0.88[EUR][1000 genomes] |
| rs7980421 | 0.90[EUR][1000 genomes] |
| rs9268 | 0.80[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 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | esv3402619 | chr12:48893535-48896233 | Inactive region | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
