Variant report
| Variant | rs4388844 |
|---|---|
| Chromosome Location | chr11:93326267-93326268 |
| allele | A/C |
| 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:27)
| rs_ID | r2[population] |
|---|---|
| rs10741466 | 0.96[EUR][1000 genomes] |
| rs10831059 | 0.92[EUR][1000 genomes] |
| rs11020425 | 0.96[EUR][1000 genomes] |
| rs1939562 | 0.96[EUR][1000 genomes] |
| rs1939573 | 0.93[EUR][1000 genomes] |
| rs2155242 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2399689 | 0.92[EUR][1000 genomes] |
| rs4753481 | 0.83[EUR][1000 genomes] |
| rs4753482 | 0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs4753483 | 0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs5025292 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs58018625 | 0.88[EUR][1000 genomes] |
| rs58172303 | 0.82[EUR][1000 genomes] |
| rs58671261 | 0.82[EUR][1000 genomes] |
| rs6483253 | 0.92[EUR][1000 genomes] |
| rs67257421 | 0.82[EUR][1000 genomes] |
| rs67437695 | 0.82[EUR][1000 genomes] |
| rs67773478 | 0.93[EUR][1000 genomes] |
| rs68159082 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7108404 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7130903 | 0.92[EUR][1000 genomes] |
| rs72970943 | 0.92[EUR][1000 genomes] |
| rs72970947 | 0.92[EUR][1000 genomes] |
| rs72972624 | 0.86[EUR][1000 genomes] |
| rs7929512 | 0.92[EUR][1000 genomes] |
| rs7930516 | 0.82[EUR][1000 genomes] |
| rs7940754 | 0.99[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv898181 | chr11:93072843-93662459 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 119 gene(s) | inside rSNPs | diseases |
| 2 | nsv1039623 | chr11:93141461-93328739 | Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
| 3 | esv3413360 | chr11:93325554-93328002 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4388844 | MED17 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:93323200-93329000 | Weak transcription | Fetal Intestine Small | intestine |
