Variant report
| Variant | rs56227318 |
|---|---|
| Chromosome Location | chr2:55696805-55696806 |
| 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 | chr2:55687006..55688643-chr2:55695301..55697827,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10496047 | 0.86[EUR][1000 genomes] |
| rs12470253 | 0.84[EUR][1000 genomes] |
| rs12471135 | 0.93[EUR][1000 genomes] |
| rs12472098 | 0.93[EUR][1000 genomes] |
| rs1454426 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17792798 | 0.94[EUR][1000 genomes] |
| rs17792822 | 0.94[EUR][1000 genomes] |
| rs41281507 | 0.94[EUR][1000 genomes] |
| rs4671247 | 0.94[EUR][1000 genomes] |
| rs4672053 | 0.94[EUR][1000 genomes] |
| rs4672057 | 0.87[EUR][1000 genomes] |
| rs4672059 | 0.81[EUR][1000 genomes] |
| rs55850643 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs55919620 | 0.84[EUR][1000 genomes] |
| rs55987004 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56286204 | 0.87[EUR][1000 genomes] |
| rs56299972 | 0.86[EUR][1000 genomes] |
| rs56409619 | 1.00[ASN][1000 genomes] |
| rs56769899 | 0.88[EUR][1000 genomes] |
| rs60312537 | 0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6741902 | 0.86[EUR][1000 genomes] |
| rs6752098 | 0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72801524 | 1.00[ASN][1000 genomes] |
| rs7600034 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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 | nsv1006170 | chr2:55530179-55809251 | Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv520581 | chr2:55622825-55903016 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 3 | nsv531374 | chr2:55653723-56299784 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:55695800-55697200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
