Variant report
| Variant | rs1370657 |
|---|---|
| Chromosome Location | chr2:178716423-178716424 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs10930813 | 1.00[AMR][1000 genomes] |
| rs1438052 | 0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1898588 | 0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2573086 | 0.84[AFR][1000 genomes] |
| rs2695095 | 0.87[YRI][hapmap];0.95[AFR][1000 genomes] |
| rs2695096 | 0.87[YRI][hapmap];0.90[AFR][1000 genomes] |
| rs2695106 | 0.95[AFR][1000 genomes] |
| rs2695114 | 0.84[AFR][1000 genomes] |
| rs2695720 | 0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2695721 | 0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2695723 | 0.88[YRI][hapmap] |
| rs2695725 | 0.87[YRI][hapmap] |
| rs2695727 | 0.88[YRI][hapmap];0.85[AFR][1000 genomes] |
| rs2695759 | 0.86[AFR][1000 genomes] |
| rs56189218 | 0.90[AFR][1000 genomes] |
| rs56230218 | 0.90[AFR][1000 genomes] |
| rs56300810 | 0.84[AFR][1000 genomes] |
| rs6433700 | 0.88[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs6712039 | 0.90[AFR][1000 genomes] |
| rs6713949 | 1.00[AMR][1000 genomes] |
| rs6752913 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes] |
| rs6756270 | 1.00[AMR][1000 genomes] |
| rs73972662 | 0.90[AFR][1000 genomes] |
| rs73972663 | 0.90[AFR][1000 genomes] |
| rs73972665 | 0.84[AFR][1000 genomes] |
| rs73972667 | 0.90[AFR][1000 genomes] |
| rs73972668 | 0.90[AFR][1000 genomes] |
| rs73972669 | 0.90[AFR][1000 genomes] |
| rs7570577 | 1.00[AMR][1000 genomes] |
| rs9283485 | 0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs934806 | 1.00[AMR][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 | nsv999086 | chr2:178262348-178773585 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv536055 | chr2:178262348-178773585 | Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv3053 | chr2:178690640-178735132 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:178699800-178716600 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 2 | chr2:178716400-178716600 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
