Variant report
| Variant | rs58192678 |
|---|---|
| Chromosome Location | chr12:30554388-30554389 |
| 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 | chr12:30552137..30554931-chr2:19547120..19549825,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000266738 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs11832986 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12307190 | 0.91[EUR][1000 genomes] |
| rs12308930 | 0.91[EUR][1000 genomes] |
| rs12320822 | 0.91[EUR][1000 genomes] |
| rs12322450 | 0.91[EUR][1000 genomes] |
| rs16906339 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs16906347 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2351920 | 0.91[EUR][1000 genomes] |
| rs3866687 | 0.91[EUR][1000 genomes] |
| rs3866688 | 0.91[EUR][1000 genomes] |
| rs3885183 | 0.91[EUR][1000 genomes] |
| rs57573513 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57982142 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs58759836 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7132701 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73075867 | 0.82[EUR][1000 genomes] |
| rs7487093 | 0.91[EUR][1000 genomes] |
| rs7954663 | 1.00[EUR][1000 genomes] |
| rs7974124 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
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 | 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 |
| 4 | nsv1042998 | chr12:30549221-30583230 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30546600-30555000 | Weak transcription | Liver | Liver |
| 2 | chr12:30551800-30555400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
