Variant report
| Variant | rs602915 |
|---|---|
| Chromosome Location | chr5:118119102-118119103 |
| allele | C/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 | chr5:118111874..118114784-chr5:118117605..118120006,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs1949100 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs2216563 | 0.86[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs365096 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs374204 | 0.83[EUR][1000 genomes] |
| rs413524 | 0.83[EUR][1000 genomes] |
| rs421765 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs453422 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs583982 | 1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs589297 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs602886 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs623228 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs630247 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs635286 | 0.89[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs643819 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs645325 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs655599 | 0.95[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs657948 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs673381 | 0.82[EUR][1000 genomes] |
| rs673479 | 0.84[EUR][1000 genomes] |
| rs677881 | 0.80[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs682857 | 0.85[AMR][1000 genomes];0.92[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 | nsv1032241 | chr5:117900051-118157400 | Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv882767 | chr5:117931730-118385691 | Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 3 | nsv882768 | chr5:118088385-118133786 | Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| 4 | nsv882769 | chr5:118088385-118154368 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| 5 | nsv882770 | chr5:118089798-118133786 | Enhancers Flanking Active TSS Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:118118400-118126400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
