Variant report
| Variant | rs55988918 |
|---|---|
| Chromosome Location | chr2:187870575-187870576 |
| allele | A/G |
| 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 | chr2:187870104..187873054-chr2:187885358..187887702,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs16828575 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16828603 | 0.94[EUR][1000 genomes] |
| rs16828623 | 0.88[EUR][1000 genomes] |
| rs16828674 | 0.88[EUR][1000 genomes] |
| rs4233793 | 0.83[EUR][1000 genomes] |
| rs4381752 | 0.82[EUR][1000 genomes] |
| rs4465740 | 0.82[EUR][1000 genomes] |
| rs4666718 | 0.93[AMR][1000 genomes] |
| rs4667137 | 0.93[AMR][1000 genomes] |
| rs4667139 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs55763386 | 0.94[EUR][1000 genomes] |
| rs55831424 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs55941489 | 0.88[EUR][1000 genomes] |
| rs55983947 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs56045439 | 0.82[EUR][1000 genomes] |
| rs56740282 | 0.82[EUR][1000 genomes] |
| rs58465774 | 0.94[EUR][1000 genomes] |
| rs59567244 | 0.82[EUR][1000 genomes] |
| rs59938343 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73979610 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73979626 | 0.94[EUR][1000 genomes] |
| rs73979641 | 0.94[EUR][1000 genomes] |
| rs73979644 | 0.94[EUR][1000 genomes] |
| rs73979695 | 0.82[EUR][1000 genomes] |
| rs73981103 | 0.88[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv949700 | chr2:187713412-188361211 | Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv528437 | chr2:187778830-187907901 | Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv999207 | chr2:187787121-187924667 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv536084 | chr2:187787121-187924667 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv875553 | chr2:187856937-188067355 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:187866800-187875600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr2:187868800-187872600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
| 3 | chr2:187868800-187877000 | Weak transcription | Placenta | Placenta |
