Variant report
| Variant | rs11050840 |
|---|---|
| Chromosome Location | chr12:30498332-30498333 |
| 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 |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10771703 | 0.89[ASN][1000 genomes] |
| rs10843729 | 0.88[ASN][1000 genomes] |
| rs10843730 | 0.87[ASN][1000 genomes] |
| rs10843732 | 0.80[AFR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11050839 | 0.88[ASN][1000 genomes] |
| rs11050841 | 0.88[ASN][1000 genomes] |
| rs11050842 | 0.88[ASN][1000 genomes] |
| rs11050843 | 0.88[ASN][1000 genomes] |
| rs11050844 | 0.88[ASN][1000 genomes] |
| rs11050845 | 0.88[ASN][1000 genomes] |
| rs11050846 | 0.88[ASN][1000 genomes] |
| rs12579317 | 0.88[ASN][1000 genomes] |
| rs12579379 | 0.88[ASN][1000 genomes] |
| rs1588009 | 0.89[ASN][1000 genomes] |
| rs1588011 | 0.89[ASN][1000 genomes] |
| rs1896906 | 0.89[ASN][1000 genomes] |
| rs2564585 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs354128 | 0.84[ASN][1000 genomes] |
| rs354153 | 0.81[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs4094863 | 0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs6487902 | 0.88[ASN][1000 genomes] |
| rs6487906 | 0.89[ASN][1000 genomes] |
| rs7138814 | 0.88[ASN][1000 genomes] |
| rs7139058 | 0.88[ASN][1000 genomes] |
| rs7139191 | 0.88[ASN][1000 genomes] |
| rs7139306 | 0.88[ASN][1000 genomes] |
| rs7309482 | 0.82[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7962895 | 0.85[ASN][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 | esv11198 | chr12:30496609-30508640 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | esv20294 | chr12:30498226-30501743 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30498200-30501400 | Enhancers | Fetal Heart | heart |
