Variant report
| Variant | rs493980 |
|---|---|
| Chromosome Location | chr1:93536361-93536362 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:93535454..93537816-chr1:93542271..93545501,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000143033 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs11164867 | 0.89[ASN][1000 genomes] |
| rs12022729 | 0.83[JPT][hapmap] |
| rs12043577 | 0.83[JPT][hapmap] |
| rs2265927 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs680285 | 0.84[JPT][hapmap] |
| rs808833 | 0.84[JPT][hapmap] |
| rs9787147 | 0.83[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1008602 | chr1:93176811-93640808 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
| 2 | nsv830614 | chr1:93465978-93678700 | Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 3 | nsv870775 | chr1:93481640-93543119 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs493980 | BRDT | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
