Variant report
| Variant | rs12642701 |
|---|---|
| Chromosome Location | chr4:18596130-18596131 |
| allele | C/T |
| 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 | chr4:18023031..18024982-chr4:18595679..18597330,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000178177 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs10011699 | 0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10021749 | 0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10024438 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12498192 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs12498461 | 0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12502238 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12508953 | 0.86[ASN][1000 genomes] |
| rs12508989 | 0.86[ASN][1000 genomes] |
| rs12644849 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2616467 | 0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4698697 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs4698698 | 0.89[ASN][1000 genomes] |
| rs6835867 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1003931 | chr4:18241575-18849898 | Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv533087 | chr4:18362040-19176896 | Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
