Variant report
| Variant | rs7342354 |
|---|---|
| Chromosome Location | chr12:29550986-29550987 |
| allele | A/C |
| 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 | chr12:29541062..29545013-chr12:29549757..29553223,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257599 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs35183403 | 1.00[AMR][1000 genomes] |
| rs57967706 | 0.92[AFR][1000 genomes] |
| rs58244411 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58552561 | 0.95[AFR][1000 genomes] |
| rs59173481 | 0.89[AFR][1000 genomes] |
| rs59368526 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs59442924 | 0.92[AFR][1000 genomes] |
| rs60044892 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs60675725 | 0.97[AFR][1000 genomes] |
| rs60697326 | 0.92[AFR][1000 genomes] |
| rs61447708 | 0.89[AFR][1000 genomes] |
| rs74076684 | 0.86[AFR][1000 genomes] |
| rs74076962 | 0.84[AFR][1000 genomes] |
| rs74077152 | 0.97[AFR][1000 genomes] |
| rs74078140 | 0.97[AFR][1000 genomes] |
| rs74078141 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74078154 | 1.00[AMR][1000 genomes] |
| rs74078156 | 1.00[AMR][1000 genomes] |
| rs74078157 | 1.00[AMR][1000 genomes] |
| rs74078380 | 0.92[AFR][1000 genomes] |
| rs74078381 | 0.92[AFR][1000 genomes] |
| rs878838 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv995123 | chr12:29095272-29571558 | Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv1053641 | chr12:29268813-29854413 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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 target site | 40 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29550200-29551600 | Weak transcription | HMEC | breast |
