Variant report
| Variant | rs2531822 |
|---|---|
| Chromosome Location | chr6:28468301-28468302 |
| 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 | chr6:28467073..28469252-chr6:28582914..28584579,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000232040 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs1003359 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs16894139 | 0.82[ASN][1000 genomes] |
| rs2078035 | 0.82[ASN][1000 genomes] |
| rs2078439 | 0.82[ASN][1000 genomes] |
| rs2191037 | 0.88[ASN][1000 genomes] |
| rs2227228 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2859355 | 0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2859356 | 0.88[ASN][1000 genomes] |
| rs2859358 | 0.88[ASN][1000 genomes] |
| rs377514 | 0.82[ASN][1000 genomes] |
| rs406113 | 0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs434112 | 0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs440481 | 0.81[ASN][1000 genomes] |
| rs445870 | 0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs451774 | 0.84[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4713167 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6456822 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6456823 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6921021 | 0.83[ASN][1000 genomes] |
| rs7743046 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs9468385 | 0.80[ASN][1000 genomes] |
| rs974334 | 0.88[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 | nsv462666 | chr6:28417222-28574415 | Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv601210 | chr6:28417222-28574415 | Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 3 | nsv1020689 | chr6:28449137-28635171 | Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:28466400-28473000 | Weak transcription | K562 | blood |
| 2 | chr6:28466600-28470800 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
