Variant report
| Variant | rs2638235 |
|---|---|
| Chromosome Location | chr12:40584603-40584604 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 12:40583667-40584606..12:40703633-40711447 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188906 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs1388585 | 0.85[YRI][hapmap] |
| rs2244159 | 0.90[AFR][1000 genomes] |
| rs2244534 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2244780 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes] |
| rs2253021 | 0.86[AFR][1000 genomes] |
| rs2253171 | 0.85[YRI][hapmap];0.86[AFR][1000 genomes] |
| rs2253867 | 0.86[AFR][1000 genomes] |
| rs2638223 | 0.86[AFR][1000 genomes] |
| rs2638236 | 1.00[AFR][1000 genomes] |
| rs2638237 | 1.00[AFR][1000 genomes] |
| rs2638240 | 1.00[AFR][1000 genomes] |
| rs2638241 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2638242 | 0.90[AFR][1000 genomes] |
| rs2638243 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2638261 | 0.85[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2638265 | 0.85[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2708403 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2708405 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2708406 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2708410 | 1.00[AFR][1000 genomes] |
| rs2708411 | 0.87[AFR][1000 genomes] |
| rs2708415 | 1.00[AFR][1000 genomes] |
| rs2708416 | 1.00[YRI][hapmap] |
| rs2708460 | 0.86[AFR][1000 genomes] |
| rs2708461 | 0.85[YRI][hapmap];0.86[AFR][1000 genomes] |
| rs2708462 | 1.00[AFR][1000 genomes] |
| rs2708471 | 1.00[AFR][1000 genomes] |
| rs2708475 | 0.85[YRI][hapmap];1.00[AFR][1000 genomes] |
| rs2708483 | 1.00[AFR][1000 genomes] |
| rs2708484 | 0.85[YRI][hapmap];0.93[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv558596 | chr12:40413698-40591117 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045516 | chr12:40543200-40589557 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | n/a |
| 3 | nsv1044685 | chr12:40574460-40771612 | Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40582200-40584800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr12:40584400-40586000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
