Variant report
| Variant | rs6996280 |
|---|---|
| Chromosome Location | chr8:110445069-110445070 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:110443668..110447226-chr8:110448028..110451170,4 | K562 | blood: | |
| 2 | chr8:110443668..110445641-chr8:110448319..110451170,3 | K562 | blood: | |
| 3 | chr8:110429297..110431956-chr8:110445022..110447169,2 | K562 | blood: | |
| 4 | chr8:110438163..110441059-chr8:110444438..110447388,2 | K562 | blood: | |
| 5 | chr8:110441796..110443720-chr8:110443789..110445580,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs12541569 | 0.89[YRI][hapmap] |
| rs12543415 | 0.89[YRI][hapmap] |
| rs61741363 | 1.00[AMR][1000 genomes] |
| rs6469258 | 1.00[AMR][1000 genomes] |
| rs6469259 | 0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6469269 | 1.00[AMR][1000 genomes] |
| rs6998812 | 1.00[AMR][1000 genomes] |
| rs7000579 | 0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7008100 | 0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73309408 | 1.00[AMR][1000 genomes] |
| rs7834361 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7838916 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv891273 | chr8:110219735-110475874 | Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv891279 | chr8:110268104-110450092 | Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 3 | nsv891280 | chr8:110346363-110465481 | Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 4 | nsv1018510 | chr8:110403496-110504029 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:110442400-110445600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
