Variant report
| Variant | rs57400924 |
|---|---|
| Chromosome Location | chr5:108585135-108585136 |
| 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 | chr19:19215988..19216797-chr5:108584709..108585530,2 | HCT-116 | colon: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000181035 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10070978 | 0.85[ASN][1000 genomes] |
| rs10078014 | 0.84[ASN][1000 genomes] |
| rs11743213 | 0.82[EUR][1000 genomes] |
| rs12515174 | 0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12520021 | 0.92[ASN][1000 genomes] |
| rs12522058 | 0.82[ASN][1000 genomes] |
| rs12522411 | 0.92[ASN][1000 genomes] |
| rs1363214 | 0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1422003 | 0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs17473588 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs17473831 | 0.84[EUR][1000 genomes] |
| rs4346815 | 0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4645374 | 0.92[ASN][1000 genomes] |
| rs60496657 | 0.92[ASN][1000 genomes] |
| rs62376832 | 0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs6864796 | 0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6866668 | 0.92[ASN][1000 genomes] |
| rs6877495 | 0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6881141 | 0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6884332 | 0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6899020 | 0.92[ASN][1000 genomes] |
| rs7700949 | 0.92[ASN][1000 genomes] |
| rs7715416 | 0.88[ASN][1000 genomes] |
| rs7716124 | 0.85[ASN][1000 genomes] |
| rs7718897 | 0.90[ASN][1000 genomes] |
| rs7720237 | 0.92[ASN][1000 genomes] |
| rs7727900 | 0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9968753 | 0.83[EUR][1000 genomes];0.89[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 | nsv1027163 | chr5:108445447-108839913 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
| 2 | nsv599338 | chr5:108528729-108675737 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv4955 | chr5:108577946-108611852 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:108584200-108585200 | Enhancers | Fetal Muscle Leg | muscle |
| 2 | chr5:108585000-108586400 | Weak transcription | Placenta | Placenta |
