Variant report
| Variant | rs72749591 |
|---|---|
| Chromosome Location | chr1:224049802-224049803 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr1:224049643-224049963 | HepG2 | liver: | n/a | chr1:224049811-224049826 |
| 2 | E2F4 | chr1:224049637-224049837 | MCF10A-Er-Src | breast: | n/a | n/a |
| 3 | MAFF | chr1:224049654-224049951 | K562 | blood: | n/a | chr1:224049810-224049828 |
| 4 | MAFK | chr1:224049650-224049958 | IMR90 | lung: | n/a | chr1:224049811-224049826 |
| 5 | MAFF | chr1:224049677-224049952 | HepG2 | liver: | n/a | chr1:224049810-224049828 |
| 6 | MAFK | chr1:224049714-224049932 | K562 | blood: | n/a | chr1:224049811-224049826 |
| 7 | POLR2A | chr1:224049588-224049936 | K562 | blood: | n/a | n/a |
| 8 | MAFK | chr1:224049640-224049975 | HepG2 | liver: | n/a | chr1:224049811-224049826 |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:224043695..224046031-chr1:224047315..224049831,3 | K562 | blood: | |
| 2 | chr1:224030773..224035996-chr1:224045738..224052159,10 | MCF-7 | breast: | |
| 3 | chr1:224048345..224051041-chr1:224057644..224060087,2 | K562 | blood: | |
| 4 | chr1:224032237..224035602-chr1:224046110..224051630,7 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PHBP11 | TF binding region |
| ENSG00000227621 | Chromatin interaction |
| ENSG00000143514 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs1037952 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs12130788 | 1.00[AFR][1000 genomes] |
| rs12132879 | 1.00[AFR][1000 genomes] |
| rs16842321 | 0.92[EUR][1000 genomes] |
| rs28370004 | 1.00[AFR][1000 genomes] |
| rs28370163 | 1.00[AFR][1000 genomes];0.81[AMR][1000 genomes] |
| rs4653566 | 1.00[AFR][1000 genomes] |
| rs60596974 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs6703817 | 0.86[EUR][1000 genomes] |
| rs72749511 | 1.00[AFR][1000 genomes] |
| rs72749512 | 1.00[AFR][1000 genomes] |
| rs72749513 | 1.00[AFR][1000 genomes] |
| rs72749554 | 1.00[AFR][1000 genomes];0.88[AMR][1000 genomes] |
| rs72749569 | 0.85[AMR][1000 genomes] |
| rs72749588 | 0.92[EUR][1000 genomes] |
| rs72749597 | 0.88[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs72749599 | 0.85[AMR][1000 genomes];0.92[EUR][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 | esv3361888 | chr1:223725597-224114846 | Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 2 | esv34082 | chr1:223851018-224144509 | Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
| 3 | nsv1008800 | chr1:223904653-224061032 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
| 4 | esv2757772 | chr1:223935220-224363163 | Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| 5 | esv2759000 | chr1:223935220-224363163 | Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| 6 | esv1793921 | chr1:224048131-224105965 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 7 | nsv945313 | chr1:224048561-224060636 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:224044800-224051800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr1:224048400-224052000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
