Variant report
| Variant | rs11747927 |
|---|---|
| Chromosome Location | chr5:59871065-59871066 |
| allele | A/G |
| 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:20)
| rs_ID | r2[population] |
|---|---|
| rs11739724 | 0.84[ASN][1000 genomes] |
| rs11951950 | 0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1445852 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs1562235 | 0.83[ASN][1000 genomes] |
| rs1867702 | 0.87[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs249070 | 0.85[ASN][1000 genomes] |
| rs2591636 | 0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs286148 | 0.85[AMR][1000 genomes] |
| rs286153 | 0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs286154 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs286155 | 0.87[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs2898287 | 0.83[ASN][1000 genomes] |
| rs3958943 | 0.82[ASN][1000 genomes] |
| rs4700378 | 0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4700379 | 0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4700381 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs55768631 | 0.82[ASN][1000 genomes] |
| rs56137970 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs62372964 | 0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs6896942 | 0.82[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 | nsv1025856 | chr5:59188419-59928852 | Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv598288 | chr5:59627555-60003460 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv1018614 | chr5:59708223-59910308 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 4 | nsv881711 | chr5:59724947-59890278 | Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11747927 | DEPDC1B | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:59864800-59872000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
