Variant report
| Variant | rs4466777 |
|---|---|
| Chromosome Location | chr10:52551922-52551923 |
| 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 | chr10:52383161..52385801-chr10:52551039..52553128,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000198964 | Chromatin interaction |
| ENSG00000226200 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10740041 | 1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10821826 | 0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16914267 | 1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2820743 | 0.84[EUR][1000 genomes] |
| rs2820760 | 0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2820762 | 1.00[CHB][hapmap] |
| rs4078160 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4245007 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs4245008 | 1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4256922 | 1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4382847 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs4445583 | 1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4619096 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4935002 | 0.83[ASN][1000 genomes] |
| rs4935190 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs61857132 | 0.82[EUR][1000 genomes] |
| rs6479731 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7072584 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7084132 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | 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 |
mRNA abundance (count:10)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4466777 | ASAH2 | cis | Thyroid | GTEx |
| rs4466777 | ASAH2 | cis | Artery Tibial | GTEx |
| rs4466777 | ASAH2B | cis | lung | GTEx |
| rs4466777 | ASAH2B | cis | Artery Tibial | GTEx |
| rs4466777 | ASAH2 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs4466777 | ASAH2B | cis | Muscle Skeletal | GTEx |
| rs4466777 | ASAH2B | cis | Esophagus Muscularis | GTEx |
| rs4466777 | ASAH2B | cis | Esophagus Mucosa | GTEx |
| rs4466777 | ASAH2 | cis | Adipose Subcutaneous | GTEx |
| rs4466777 | ASAH2B | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr10:52549400-52554200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr10:52549600-52562800 | Weak transcription | Liver | Liver |
