Variant report
| Variant | rs58428803 |
|---|---|
| Chromosome Location | chr12:30510036-30510037 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:30507863..30511356-chr12:30514045..30517303,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10160883 | 1.00[EUR][1000 genomes] |
| rs10466816 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11050813 | 1.00[EUR][1000 genomes] |
| rs12302141 | 1.00[EUR][1000 genomes] |
| rs12310979 | 1.00[EUR][1000 genomes] |
| rs12311468 | 1.00[EUR][1000 genomes] |
| rs12311583 | 1.00[EUR][1000 genomes] |
| rs1366937 | 1.00[EUR][1000 genomes] |
| rs16905931 | 1.00[EUR][1000 genomes] |
| rs1864313 | 1.00[EUR][1000 genomes] |
| rs187121 | 1.00[EUR][1000 genomes] |
| rs2564555 | 1.00[EUR][1000 genomes] |
| rs2564557 | 1.00[EUR][1000 genomes] |
| rs2564558 | 1.00[EUR][1000 genomes] |
| rs28852826 | 1.00[EUR][1000 genomes] |
| rs354139 | 1.00[EUR][1000 genomes] |
| rs60542370 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6487890 | 1.00[EUR][1000 genomes] |
| rs666917 | 1.00[EUR][1000 genomes] |
| rs73280285 | 1.00[EUR][1000 genomes] |
| rs73280289 | 1.00[EUR][1000 genomes] |
| rs73280293 | 1.00[EUR][1000 genomes] |
| rs74081267 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7965161 | 1.00[EUR][1000 genomes] |
| rs7973419 | 1.00[EUR][1000 genomes] |
| rs7979205 | 1.00[AMR][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 | nsv832360 | chr12:30393329-30555693 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | esv3343291 | chr12:30455597-30992837 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 3 | esv2754065 | chr12:30499833-30560733 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30501400-30510800 | Weak transcription | Fetal Heart | heart |
| 2 | chr12:30509800-30510200 | Weak transcription | Fetal Lung | lung |
