Variant report
| Variant | rs521197 |
|---|---|
| Chromosome Location | chr1:170143261-170143262 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr1:170143175-170143288 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000233985 | TF binding region |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs1095031 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12048441 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1360292 | 0.88[ASN][1000 genomes] |
| rs473943 | 0.95[CEU][hapmap];1.00[YRI][hapmap] |
| rs486427 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs506303 | 0.85[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs516352 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs548458 | 0.95[CEU][hapmap];1.00[YRI][hapmap] |
| rs6687353 | 0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7518785 | 0.88[ASN][1000 genomes] |
| rs7518981 | 0.88[ASN][1000 genomes] |
| rs7541175 | 0.88[ASN][1000 genomes] |
| rs824670 | 0.95[CEU][hapmap];0.85[YRI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1014033 | chr1:169968488-170453021 | Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv535200 | chr1:169968488-170453021 | Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv999310 | chr1:170065943-170223350 | Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv3454 | chr1:170134880-170149447 | Weak transcription Enhancers Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
