Variant report
| Variant | rs73088540 |
|---|---|
| Chromosome Location | chr12:30449550-30449551 |
| 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 | chr12:30448261..30450995-chr12:30458439..30460562,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000251781 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs12302529 | 1.00[EUR][1000 genomes] |
| rs12307087 | 1.00[EUR][1000 genomes] |
| rs58374057 | 1.00[EUR][1000 genomes] |
| rs73073973 | 1.00[EUR][1000 genomes] |
| rs73073976 | 1.00[EUR][1000 genomes] |
| rs73073979 | 1.00[EUR][1000 genomes] |
| rs73073983 | 1.00[EUR][1000 genomes] |
| rs73073990 | 1.00[EUR][1000 genomes] |
| rs73073995 | 1.00[EUR][1000 genomes] |
| rs73073998 | 1.00[EUR][1000 genomes] |
| rs73075843 | 1.00[EUR][1000 genomes] |
| rs73075845 | 1.00[EUR][1000 genomes] |
| rs73075846 | 1.00[EUR][1000 genomes] |
| rs73075848 | 1.00[EUR][1000 genomes] |
| rs73075849 | 1.00[EUR][1000 genomes] |
| rs73075850 | 1.00[EUR][1000 genomes] |
| rs73075854 | 1.00[EUR][1000 genomes] |
| rs73077754 | 1.00[EUR][1000 genomes] |
| rs73079866 | 1.00[EUR][1000 genomes] |
| rs73079882 | 1.00[EUR][1000 genomes] |
| rs73088524 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73090544 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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 | nsv821695 | chr12:30287314-30450174 | Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | 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 |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
