Variant report
| Variant | rs4728008 |
|---|---|
| Chromosome Location | chr7:79729602-79729603 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr7:79729598-79729941 | H1-hESC | embryonic stem cell: | n/a | chr7:79729763-79729778 |
| 2 | MAFK | chr7:79729586-79729956 | HepG2 | liver: | n/a | chr7:79729763-79729778 |
| 3 | MAFF | chr7:79729594-79729950 | HepG2 | liver: | n/a | chr7:79729761-79729779 |
| 4 | MAFK | chr7:79729597-79729935 | K562 | blood: | n/a | chr7:79729763-79729778 |
| 5 | MAFK | chr7:79729593-79729958 | IMR90 | lung: | n/a | chr7:79729763-79729778 |
| 6 | MAFF | chr7:79729595-79729946 | K562 | blood: | n/a | chr7:79729761-79729779 |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:79727798..79730628-chr7:79742506..79744646,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000230853 | TF binding region |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10155854 | 0.86[EUR][1000 genomes] |
| rs1018932 | 0.83[EUR][1000 genomes] |
| rs1018933 | 0.88[EUR][1000 genomes] |
| rs10248649 | 0.89[EUR][1000 genomes] |
| rs10254386 | 0.85[EUR][1000 genomes] |
| rs10273160 | 0.82[EUR][1000 genomes] |
| rs10954046 | 0.85[EUR][1000 genomes] |
| rs10954047 | 0.84[EUR][1000 genomes] |
| rs12531497 | 0.91[EUR][1000 genomes] |
| rs1962777 | 0.82[EUR][1000 genomes] |
| rs2189340 | 0.81[EUR][1000 genomes] |
| rs2366235 | 0.85[EUR][1000 genomes] |
| rs2886607 | 0.86[EUR][1000 genomes] |
| rs6466947 | 0.86[EUR][1000 genomes] |
| rs6945349 | 0.86[EUR][1000 genomes] |
| rs6952190 | 0.85[EUR][1000 genomes] |
| rs6959063 | 0.84[EUR][1000 genomes] |
| rs6973993 | 0.83[EUR][1000 genomes] |
| rs6974765 | 0.84[EUR][1000 genomes] |
| rs6979946 | 0.81[EUR][1000 genomes] |
| rs7810958 | 0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv429785 | chr7:79589749-80177049 | Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv1027494 | chr7:79693976-79760332 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:79721400-79735000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
| 2 | chr7:79726400-79735400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
