Variant report
| Variant | rs3094573 |
|---|---|
| Chromosome Location | chr6:29446632-29446633 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:13)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:13 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr6:29446459-29446920 | MCF-7 | breast: | n/a | chr6:29446683-29446694 |
| 2 | CEBPB | chr6:29446497-29446878 | H1-hESC | embryonic stem cell: | n/a | chr6:29446683-29446694 |
| 3 | CEBPB | chr6:29446497-29446881 | HepG2 | liver: | n/a | chr6:29446683-29446694 |
| 4 | CEBPB | chr6:29446495-29446878 | IMR90 | lung: | n/a | chr6:29446683-29446694 |
| 5 | CEBPB | chr6:29446554-29446877 | A549 | lung: | n/a | chr6:29446683-29446694 |
| 6 | CEBPB | chr6:29446483-29446932 | K562 | blood: | n/a | chr6:29446683-29446694 |
| 7 | CEBPB | chr6:29446581-29446887 | ECC-1 | luminal epithelium: | n/a | chr6:29446683-29446694 |
| 8 | CEBPB | chr6:29446443-29446969 | MCF-7 | breast: | n/a | chr6:29446683-29446694 |
| 9 | CEBPB | chr6:29446488-29446990 | A549 | lung: | n/a | chr6:29446683-29446694 |
| 10 | CEBPB | chr6:29446494-29446887 | A549 | lung: | n/a | chr6:29446683-29446694 |
| 11 | CEBPB | chr6:29446548-29446769 | K562 | blood: | n/a | chr6:29446683-29446694 |
| 12 | CEBPB | chr6:29446448-29447033 | K562 | blood: | n/a | chr6:29446683-29446694 |
| 13 | CEBPB | chr6:29446613-29446744 | HepG2 | liver: | n/a | chr6:29446683-29446694 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MAS1LP1 | TF binding region |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs1362075 | 0.82[EUR][1000 genomes] |
| rs1592412 | 0.82[EUR][1000 genomes] |
| rs2074464 | 0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2107191 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs3094561 | 0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs3094564 | 0.82[EUR][1000 genomes] |
| rs3094572 | 0.82[EUR][1000 genomes] |
| rs3094574 | 0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs3117194 | 0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs3128844 | 0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs3128854 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs3130849 | 0.81[EUR][1000 genomes] |
| rs3130852 | 0.82[EUR][1000 genomes] |
| rs3130854 | 0.82[EUR][1000 genomes] |
| rs3131019 | 0.82[EUR][1000 genomes] |
| rs734959 | 0.83[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3424039 | chr6:29439297-29504564 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:5)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs3094573 | C6orf227 | cis | parietal | SCAN |
| rs3094573 | ZKSCAN3 | cis | cerebellum | SCAN |
| rs3094573 | ZFP57 | Cis_1M | lymphoblastoid | RTeQTL |
| rs3094573 | SLC17A3 | cis | parietal | SCAN |
| rs3094573 | HMGN4 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
