Variant report
| Variant | rs10740013 |
|---|---|
| Chromosome Location | chr10:52498377-52498378 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr10:52498122-52498408 | K562 | blood: | n/a | n/a |
| 2 | USF1 | chr10:52498166-52498432 | K562 | blood: | n/a | n/a |
| 3 | USF1 | chr10:52498155-52498378 | HepG2 | liver: | n/a | n/a |
| 4 | MAX | chr10:52498095-52498425 | K562 | blood: | n/a | chr10:52498286-52498301 chr10:52498288-52498298 chr10:52498288-52498297 chr10:52498284-52498299 chr10:52498287-52498298 chr10:52498287-52498298 chr10:52498288-52498298 |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ASAH2B | TF binding region |
| ENSG00000198964 | Chromatin interaction |
| ENSG00000226200 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs16914267 | 0.80[EUR][1000 genomes] |
| rs2820743 | 0.81[EUR][1000 genomes] |
| rs2820760 | 0.81[EUR][1000 genomes] |
| rs4445583 | 0.83[EUR][1000 genomes] |
| rs61857132 | 0.83[EUR][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 | nsv895393 | chr10:52413720-52530819 | Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv948007 | chr10:52414948-52500270 | Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | nsv1035197 | chr10:52446582-52622349 | Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | esv1825222 | chr10:52477544-52527856 | Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:8)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10740013 | ASAH2B | cis | lung | GTEx |
| rs10740013 | ASAH2B | cis | Muscle Skeletal | GTEx |
| rs10740013 | ASAH2B | cis | Esophagus Mucosa | GTEx |
| rs10740013 | ASAH2B | cis | Stomach | GTEx |
| rs10740013 | ASAH2B | cis | Esophagus Muscularis | GTEx |
| rs10740013 | ASAH2 | cis | Thyroid | GTEx |
| rs10740013 | ASAH2 | cis | Artery Tibial | GTEx |
| rs10740013 | ASAH2B | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:52498200-52498800 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 2 | chr10:52498200-52499000 | Enhancers | Primary T cells fromperipheralblood | blood |
