Variant report
| Variant | rs2936042 |
|---|---|
| Chromosome Location | chr1:222771279-222771280 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:222769042..222774678-chr1:222788731..222793044,4 | MCF-7 | breast: | |
| 2 | chr1:222770629..222772208-chr1:222801715..222804127,2 | K562 | blood: | |
| 3 | chr1:222769721..222773019-chr1:222787711..222792892,5 | K562 | blood: | |
| 4 | chr1:222735151..222737667-chr1:222771171..222774025,2 | K562 | blood: | |
| 5 | chr1:222762305..222766716-chr1:222770153..222775220,6 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000154305 | Chromatin interaction |
| ENSG00000143498 | Chromatin interaction |
| ENSG00000225265 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs2936028 | 1.00[AFR][1000 genomes] |
| rs2936029 | 1.00[AFR][1000 genomes] |
| rs2936043 | 1.00[AFR][1000 genomes] |
| rs2936053 | 1.00[AFR][1000 genomes] |
| rs3002127 | 1.00[AFR][1000 genomes] |
| rs3002135 | 1.00[AFR][1000 genomes] |
| rs3002153 | 1.00[AFR][1000 genomes] |
| rs3008619 | 1.00[AFR][1000 genomes] |
| rs3008636 | 1.00[AFR][1000 genomes] |
| rs3008643 | 1.00[AFR][1000 genomes] |
| rs3008646 | 1.00[AFR][1000 genomes] |
| rs3008648 | 0.87[AFR][1000 genomes] |
| rs3008649 | 1.00[AFR][1000 genomes] |
| rs3008652 | 1.00[AFR][1000 genomes] |
| rs35877231 | 1.00[AFR][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 | nsv873203 | chr1:222332906-222775000 | Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv999185 | chr1:222500725-223278032 | Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| 3 | nsv535304 | chr1:222500725-223278032 | Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| 4 | nsv873205 | chr1:222718718-222923351 | Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 5 | nsv1012537 | chr1:222755091-223512243 | Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:222764000-222773600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr1:222769200-222773600 | Enhancers | Stomach Mucosa | stomach |
