Variant report
| Variant | rs7994724 |
|---|---|
| Chromosome Location | chr13:51445560-51445561 |
| allele | A/G |
| 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 | chr13:51444050..51446783-chr13:51482621..51484438,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000136104 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs1328360 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs17589481 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs1870839 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs2441 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs4942941 | 1.00[ASN][1000 genomes] |
| rs680705 | 0.82[EUR][1000 genomes] |
| rs9526704 | 1.00[ASN][1000 genomes] |
| rs9526705 | 1.00[ASN][1000 genomes] |
| rs9526708 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs9535516 | 1.00[ASN][1000 genomes] |
| rs9535524 | 1.00[ASN][1000 genomes] |
| rs9535525 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs9535528 | 1.00[ASN][1000 genomes] |
| rs9535530 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs9591369 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2753492 | chr13:50550081-51461720 | Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 1256 gene(s) | inside rSNPs | diseases |
| 2 | nsv1037350 | chr13:51272518-51447354 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv526999 | chr13:51440933-51452751 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | esv2615732 | chr13:51444142-51447075 | Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | esv14909 | chr13:51444474-51446281 | Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv3518162 | chr13:51444666-51446409 | Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 7 | esv3518174 | chr13:51444703-51446362 | Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 8 | nsv516602 | chr13:51445560-51446114 | Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7994724 | RNASEH2B | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:51442200-51447600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr13:51442800-51449800 | Weak transcription | Dnd41 | blood |
