Variant report
| Variant | rs11249565 |
|---|---|
| Chromosome Location | chr5:178161220-178161221 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | SPI1 | chr5:178161137-178161361 | GM12878 | blood: | n/a | chr5:178161222-178161235 chr5:178161224-178161233 |
| 2 | EBF1 | chr5:178161218-178161454 | GM12878 | blood: | n/a | n/a |
| 3 | EBF1 | chr5:178161154-178161456 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ZNF354A | TF binding region |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10038176 | 0.84[ASN][1000 genomes] |
| rs10043919 | 0.84[ASN][1000 genomes] |
| rs10055721 | 0.96[ASN][1000 genomes] |
| rs10479505 | 0.96[ASN][1000 genomes] |
| rs11949789 | 0.95[ASN][1000 genomes] |
| rs4260688 | 0.84[EUR][1000 genomes] |
| rs4296820 | 0.96[ASN][1000 genomes] |
| rs4398651 | 0.92[ASN][1000 genomes] |
| rs6860052 | 0.92[ASN][1000 genomes] |
| rs6873580 | 0.96[ASN][1000 genomes] |
| rs6887719 | 0.84[ASN][1000 genomes] |
| rs6888253 | 0.84[ASN][1000 genomes] |
| rs7716636 | 0.96[ASN][1000 genomes] |
| rs7727396 | 0.84[ASN][1000 genomes] |
| rs7737159 | 0.96[ASN][1000 genomes] |
| rs9329050 | 0.96[ASN][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 | nsv948342 | chr5:177384542-178168737 | Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 141 gene(s) | inside rSNPs | diseases |
| 2 | nsv1031666 | chr5:177988601-178236068 | Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv883217 | chr5:178099758-178193081 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1031206 | chr5:178149292-178283614 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 5 | nsv537973 | chr5:178149292-178283614 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:178149400-178164400 | Weak transcription | Fetal Heart | heart |
