Variant report
| Variant | rs10761448 |
|---|---|
| Chromosome Location | chr10:52488000-52488001 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr10:52473460..52475005-chr10:52487754..52490480,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PGGT1BP1 | TF binding region |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs10761464 | 0.81[AMR][1000 genomes] |
| rs10994247 | 0.89[EUR][1000 genomes] |
| rs4245003 | 0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4497350 | 0.80[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs6479702 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 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 | esv1810913 | chr10:52463568-52493703 | Enhancers Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv8663 | chr10:52466349-52495942 | Flanking Active TSS Bivalent Enhancer Active TSS Enhancers | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 6 | 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:11)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10761448 | ASAH2B | cis | Muscle Skeletal | GTEx |
| rs10761448 | ASAH2B | cis | lung | GTEx |
| rs10761448 | ASAH2B | cis | Artery Tibial | GTEx |
| rs10761448 | ASAH2B | cis | Esophagus Mucosa | GTEx |
| rs10761448 | ASAH2 | cis | Artery Tibial | GTEx |
| rs10761448 | ASAH2 | cis | Thyroid | GTEx |
| rs10761448 | ASAH2B | cis | Nerve Tibial | GTEx |
| rs10761448 | ASAH2B | cis | Esophagus Muscularis | GTEx |
| rs10761448 | ASAH2 | cis | Adipose Subcutaneous | GTEx |
| rs10761448 | ASAH2B | cis | Stomach | GTEx |
| rs10761448 | ASAH2B | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:52487800-52488000 | Bivalent Enhancer | K562 | blood |
| 2 | chr10:52488000-52488200 | Enhancers | K562 | blood |
