Variant report
| Variant | rs1493090 |
|---|---|
| Chromosome Location | chr3:28207847-28207848 |
| allele | C/T |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:28206434..28209003-chr3:28281528..28284368,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000187118 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs11705740 | 0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2131447 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2172437 | 0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs71624306 | 0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7432895 | 0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs925527 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs925528 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9833544 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
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 | esv3328565 | chr3:27991169-28915035 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv876648 | chr3:28060456-28280965 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv876649 | chr3:28126595-28718454 | Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
