Variant report
| Variant | rs531941999 |
|---|---|
| Chromosome Location | chr11:5401072-5401073 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 11:5398331-5406514..11:5707362-5712027 | K562 | blood: | |
| 2 | 11:5243048-5250847..11:5398331-5406514 | H1-hESC | embryonic stem cell: | embryo |
| 3 | 11:5250847-5268367..11:5398331-5406514 | Hela-S3 | cervix: | |
| 4 | 11:5398331-5406514..11:5527719-5533869 | H1-hESC | embryonic stem cell: | embryo |
| 5 | 11:4778081-4789138..11:5398331-5406514 | Hela-S3 | cervix: | |
| 6 | 11:5398331-5406514..11:5700314-5707362 | GM12878 | blood: | |
| 7 | 11:5146608-5154908..11:5398331-5406514 | GM12878 | blood: | |
| 8 | 11:5018576-5020673..11:5398331-5406514 | H1-hESC | embryonic stem cell: | embryo |
| 9 | 11:5218976-5222789..11:5398331-5406514 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000176798 | Chromatin interaction |
| ENSG00000176742 | Chromatin interaction |
| ENSG00000223609 | Chromatin interaction |
| ENSG00000221031 | Chromatin interaction |
| ENSG00000171944 | Chromatin interaction |
| ENSG00000260629 | Chromatin interaction |
| ENSG00000167346 | Chromatin interaction |
| ENSG00000175520 | Chromatin interaction |
| ENSG00000244734 | Chromatin interaction |
| ENSG00000132274 | Chromatin interaction |
| ENSG00000229988 | Chromatin interaction |
| ENSG00000132256 | Chromatin interaction |
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 | nsv524400 | chr11:5328361-5416622 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 2 | nsv1048608 | chr11:5328516-5645179 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 60 gene(s) | inside rSNPs | diseases |
| 3 | nsv1046068 | chr11:5335943-6063742 | Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 89 gene(s) | inside rSNPs | diseases |
| 4 | nsv896931 | chr11:5357881-5505149 | Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
| 5 | nsv832057 | chr11:5375585-5576200 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 51 gene(s) | inside rSNPs | diseases |
| 6 | nsv896932 | chr11:5392484-5424170 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | inside rSNPs | diseases |
| 7 | nsv1044243 | chr11:5401036-5432316 | Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:5401000-5404400 | Strong transcription | K562 | blood |
