Variant report
| Variant | rs16944869 |
|---|---|
| Chromosome Location | chr13:91529433-91529434 |
| 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 | chr13:91526194..91530065-chr13:91999219..92001514,3 | K562 | blood: | |
| 2 | chr13:91527534..91530490-chr13:91638435..91640751,2 | K562 | blood: | |
| 3 | chr13:91527569..91530005-chr13:91531749..91534567,2 | K562 | blood: | |
| 4 | chr13:91524739..91527901-chr13:91528193..91530987,3 | K562 | blood: | |
| 5 | chr13:91524739..91526552-chr13:91528193..91530987,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000215417 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs11840188 | 1.00[AMR][1000 genomes] |
| rs16944852 | 1.00[AMR][1000 genomes] |
| rs16944864 | 0.81[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs16944866 | 0.87[YRI][hapmap];0.93[AFR][1000 genomes] |
| rs16944867 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16944892 | 0.89[AFR][1000 genomes] |
| rs16945014 | 1.00[AMR][1000 genomes] |
| rs74103395 | 1.00[AMR][1000 genomes] |
| rs7989682 | 0.81[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv948709 | chr13:90753085-91745571 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv1043569 | chr13:91016376-91554546 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 3 | nsv932206 | chr13:91370888-91878374 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 4 | esv1794380 | chr13:91511967-91550954 | Weak transcription Enhancers Flanking Active TSS Active TSS | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 5 | esv1818560 | chr13:91511967-91550954 | Enhancers Active TSS Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 6 | esv1823322 | chr13:91511967-91550954 | Weak transcription Enhancers Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 7 | esv1849650 | chr13:91511967-91550954 | Active TSS Weak transcription Enhancers Flanking Active TSS | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:91525200-91532400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
