Variant report
| Variant | rs199583948 |
|---|---|
| Chromosome Location | chr12:42445516-42445517 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv430505 | chr12:42297931-42720773 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | nsv832387 | chr12:42345541-42465505 | Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | esv3336680 | chr12:42445250-42445648 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 4 | esv3497133 | chr12:42445250-42445648 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 5 | esv3497134 | chr12:42445250-42445648 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 6 | esv3445049 | chr12:42445258-42445672 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 7 | esv3324164 | chr12:42445278-42445584 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 8 | esv3358171 | chr12:42445333-42445542 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 9 | esv3393980 | chr12:42445489-42445545 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 10 | esv1009723 | chr12:42445502-42445539 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 11 | esv1213283 | chr12:42445514-42445552 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| 12 | nsv53002 | chr12:42445516-42445519 | Weak transcription | n/a | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42444800-42447000 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
