Variant report
| Variant | rs7599885 |
|---|---|
| Chromosome Location | chr2:30605708-30605709 |
| allele | A/C |
| 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 | chr2:30453659..30455818-chr2:30603684..30605946,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000213626 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10514771 | 0.80[EUR][1000 genomes] |
| rs11127274 | 0.80[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs11127275 | 0.80[EUR][1000 genomes] |
| rs11885821 | 0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11889918 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12468604 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12471227 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12471481 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12475327 | 0.81[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs12988691 | 0.81[EUR][1000 genomes] |
| rs12989601 | 0.80[EUR][1000 genomes] |
| rs13017527 | 0.87[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs13029614 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs13034878 | 0.80[EUR][1000 genomes] |
| rs1357851 | 0.81[EUR][1000 genomes] |
| rs34145247 | 0.80[EUR][1000 genomes] |
| rs35211324 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56375234 | 0.80[EUR][1000 genomes] |
| rs6706101 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6710587 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6726574 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6735708 | 0.80[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs6748436 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6752411 | 0.81[AMR][1000 genomes];0.86[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 | nsv533886 | chr2:30130019-31068764 | ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| 2 | nsv833648 | chr2:30505882-30696275 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 3 | nsv873769 | chr2:30585638-30625264 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:30585600-30605800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
