Variant report
| Variant | rs2494272 |
|---|---|
| Chromosome Location | chr1:197378863-197378864 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr1:197378849-197379026 | H1-hESC | embryonic stem cell: | n/a | n/a |
| 2 | CEBPB | chr1:197378686-197379062 | K562 | blood: | n/a | n/a |
| 3 | MAFK | chr1:197378512-197378877 | HepG2 | liver: | n/a | chr1:197378688-197378703 |
| 4 | MAFF | chr1:197378520-197378876 | HepG2 | liver: | n/a | chr1:197378687-197378705 |
| 5 | CEBPB | chr1:197378848-197379031 | K562 | blood: | n/a | n/a |
| 6 | CEBPB | chr1:197378769-197379082 | K562 | blood: | n/a | n/a |
| 7 | MAFK | chr1:197378533-197378870 | K562 | blood: | n/a | chr1:197378688-197378703 |
| 8 | CEBPB | chr1:197378734-197379043 | HepG2 | liver: | n/a | n/a |
| 9 | MAFK | chr1:197378509-197378875 | IMR90 | lung: | n/a | chr1:197378688-197378703 |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:197377850..197380110-chr1:197384611..197386871,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CRB1 | TF binding region |
rSNPs within LD-proxies of this variant (count:35)
| rs_ID | r2[population] |
|---|---|
| rs1033826 | 0.96[AFR][1000 genomes] |
| rs10801606 | 0.87[AFR][1000 genomes] |
| rs1570412 | 0.96[AFR][1000 genomes] |
| rs1570413 | 0.96[AFR][1000 genomes] |
| rs1923758 | 0.96[AFR][1000 genomes] |
| rs1923761 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1923763 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1951697 | 0.96[AFR][1000 genomes] |
| rs2146484 | 0.82[AFR][1000 genomes] |
| rs2146485 | 0.96[AFR][1000 genomes] |
| rs2181373 | 1.00[AFR][1000 genomes] |
| rs2359119 | 0.87[AFR][1000 genomes] |
| rs2476016 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2476017 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2476022 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2476024 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2759660 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2821099 | 1.00[AFR][1000 genomes] |
| rs2821100 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2821105 | 0.80[AFR][1000 genomes];0.85[AMR][1000 genomes] |
| rs3888104 | 0.98[AFR][1000 genomes] |
| rs3902057 | 0.98[AFR][1000 genomes] |
| rs4244150 | 0.82[AFR][1000 genomes] |
| rs4335404 | 0.96[AFR][1000 genomes] |
| rs6428401 | 0.82[AFR][1000 genomes] |
| rs6684593 | 0.96[AFR][1000 genomes] |
| rs6689739 | 0.90[AFR][1000 genomes] |
| rs6691940 | 0.87[AFR][1000 genomes] |
| rs7514167 | 0.87[AFR][1000 genomes] |
| rs7515749 | 0.92[AFR][1000 genomes] |
| rs927511 | 0.96[AFR][1000 genomes] |
| rs942050 | 0.84[AFR][1000 genomes] |
| rs9427667 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs980370 | 0.96[AFR][1000 genomes] |
| rs980371 | 0.96[AFR][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 | nsv528460 | chr1:196542567-197446702 | Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 2 | nsv1014039 | chr1:197311285-197529212 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
