Variant report
| Variant | rs9609192 |
|---|---|
| Chromosome Location | chr22:31417610-31417611 |
| 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 | chr22:31416610..31418560-chr22:31480081..31482037,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000183963 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs12152151 | 0.88[ASN][1000 genomes] |
| rs55646570 | 0.88[ASN][1000 genomes] |
| rs7284438 | 0.88[ASN][1000 genomes] |
| rs8142236 | 0.81[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9606794 | 0.85[ASN][1000 genomes] |
| rs9606799 | 1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs9606806 | 0.84[ASN][1000 genomes] |
| rs9609154 | 0.81[EUR][1000 genomes] |
| rs9609155 | 0.81[EUR][1000 genomes] |
| rs9609157 | 0.82[EUR][1000 genomes] |
| rs9609168 | 0.95[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs9609189 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9609197 | 0.88[ASN][1000 genomes] |
| rs9609199 | 0.85[ASN][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 | nsv9896 | chr22:31369204-31513933 | Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv966103 | chr22:31410201-31452981 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9609192 | TUG1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs9609192 | MORC2-AS1 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:31417600-31418800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
