Variant report
| Variant | rs56390609 |
|---|---|
| Chromosome Location | chr2:55687407-55687408 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | NR2F2 | chr2:55686795-55687577 | K562 | blood: | n/a | n/a |
| 2 | IRF1 | chr2:55687050-55688084 | K562 | blood: | n/a | chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924 |
| 3 | BHLHE40 | chr2:55687159-55687554 | K562 | blood: | n/a | n/a |
| 4 | TAL1 | chr2:55687388-55687453 | K562 | blood: | n/a | n/a |
| 5 | TBL1XR1 | chr2:55687155-55687591 | K562 | blood: | n/a | n/a |
| 6 | CBX3 | chr2:55686408-55687583 | K562 | blood: | n/a | n/a |
| 7 | ZNF384 | chr2:55686985-55687537 | K562 | blood: | n/a | n/a |
| 8 | RCOR1 | chr2:55686487-55687462 | K562 | blood: | n/a | n/a |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RNU6-221P | TF binding region |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs57298935 | 0.83[AMR][1000 genomes] |
| rs57883523 | 1.00[AMR][1000 genomes] |
| rs58772635 | 1.00[AMR][1000 genomes] |
| rs59796313 | 0.83[AMR][1000 genomes] |
| rs59822040 | 0.83[AMR][1000 genomes] |
| rs60097935 | 1.00[AMR][1000 genomes] |
| rs72917903 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs72917924 | 1.00[AMR][1000 genomes] |
| rs72917948 | 1.00[AMR][1000 genomes] |
| rs72917974 | 1.00[AMR][1000 genomes] |
| rs72917976 | 1.00[AMR][1000 genomes] |
| rs72919765 | 1.00[AMR][1000 genomes] |
| rs72919774 | 1.00[AMR][1000 genomes] |
| rs72919784 | 1.00[AMR][1000 genomes] |
| rs72921811 | 0.83[AMR][1000 genomes] |
| rs72921812 | 1.00[AMR][1000 genomes] |
| rs72923707 | 0.83[AMR][1000 genomes] |
| rs72923710 | 0.83[AMR][1000 genomes] |
| rs72923716 | 0.83[AMR][1000 genomes] |
| rs72930820 | 1.00[AMR][1000 genomes] |
| rs72930831 | 0.83[AMR][1000 genomes] |
| rs72930837 | 1.00[AMR][1000 genomes] |
| rs72930864 | 1.00[AMR][1000 genomes] |
| rs7581700 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1006170 | chr2:55530179-55809251 | Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv520581 | chr2:55622825-55903016 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 3 | nsv531374 | chr2:55653723-56299784 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 4 | esv1802545 | chr2:55668771-55687618 | Enhancers Active TSS Flanking Active TSS Weak transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:55686600-55688200 | Flanking Active TSS | K562 | blood |
| 2 | chr2:55687200-55687800 | Active TSS | Osteobl | bone |
