Variant report
| Variant | rs10147322 |
|---|---|
| Chromosome Location | chr14:77632132-77632133 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs12883963 | 0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12891631 | 0.87[EUR][1000 genomes] |
| rs1504521 | 0.81[EUR][1000 genomes] |
| rs1848402 | 0.81[EUR][1000 genomes] |
| rs1861420 | 0.81[EUR][1000 genomes] |
| rs2080384 | 0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2098381 | 0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2661828 | 0.85[EUR][1000 genomes] |
| rs28437641 | 0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs28713541 | 0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4021320 | 0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4899641 | 0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4903552 | 0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs61990331 | 0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6574354 | 0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6574355 | 0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs7148276 | 0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs7148579 | 0.82[EUR][1000 genomes] |
| rs7154702 | 0.81[EUR][1000 genomes] |
| rs8010190 | 0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs8012358 | 0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs8012863 | 0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs8016243 | 0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs888064 | 0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9788430 | 0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv431017 | chr14:76938089-77854647 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 107 gene(s) | inside rSNPs | diseases |
| 2 | nsv832834 | chr14:77554987-77724357 | Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| 3 | nsv976845 | chr14:77621865-77649191 | Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | n/a |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10147322 | TMEM63C | cis | Whole Blood | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:77625600-77632600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr14:77625600-77647200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
