Variant report
| Variant | rs11985563 |
|---|---|
| Chromosome Location | chr8:62763412-62763413 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:10)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | FOXA2 | chr8:62762863-62763558 | A549 | lung: | n/a | n/a |
| 2 | STAT3 | chr8:62763401-62763629 | MCF10A-Er-Src | breast: | n/a | n/a |
| 3 | POLR2A | chr8:62763308-62763550 | Hela-S3 | cervix: | n/a | n/a |
| 4 | MAX | chr8:62763404-62763600 | Hela-S3 | cervix: | n/a | n/a |
| 5 | STAT3 | chr8:62763384-62763645 | MCF10A-Er-Src | breast: | n/a | n/a |
| 6 | CEBPB | chr8:62763376-62763641 | Hela-S3 | cervix: | n/a | n/a |
| 7 | FOS | chr8:62763408-62763598 | MCF10A-Er-Src | breast: | n/a | n/a |
| 8 | STAT3 | chr8:62763384-62763642 | MCF10A-Er-Src | breast: | n/a | n/a |
| 9 | FOXA2 | chr8:62763030-62763483 | A549 | lung: | n/a | n/a |
| 10 | FOXA1 | chr8:62762935-62763492 | HepG2 | liver: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254119 | TF binding region |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11985530 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12542430 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12545644 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs12546384 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12549579 | 0.97[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs55743312 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs62507580 | 0.83[AMR][1000 genomes] |
| rs62507581 | 0.83[AMR][1000 genomes] |
| rs6991727 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72660968 | 0.86[AMR][1000 genomes] |
| rs72660984 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72661001 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72662623 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs72662637 | 0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1024432 | chr8:62086247-62898782 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 2 | nsv932198 | chr8:62336705-62914562 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 25 gene(s) | inside rSNPs | diseases |
| 3 | esv2761430 | chr8:62517980-62873803 | Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| 4 | nsv1015216 | chr8:62517980-62873803 | Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| 5 | esv3363755 | chr8:62702301-62764282 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 6 | nsv611427 | chr8:62733267-62848952 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 7 | nsv831338 | chr8:62736394-62913048 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 8 | esv3370289 | chr8:62759298-62764396 | ZNF genes & repeats Enhancers Weak transcription Active TSS | TF binding region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:62763200-62763800 | Active TSS | Hela-S3 | cervix |
| 2 | chr8:62763400-62764200 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
