Variant report
| Variant | rs7548183 |
|---|---|
| Chromosome Location | chr1:221311866-221311867 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EP300 | chr1:221311826-221312120 | SK-N-SH_RA | brain: | n/a | chr1:221311879-221311887 |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:221311792..221313910-chr1:221316071..221318213,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000226211 | TF binding region |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs1414514 | 1.00[AMR][1000 genomes] |
| rs57205215 | 1.00[AMR][1000 genomes] |
| rs57313937 | 1.00[AMR][1000 genomes] |
| rs57334435 | 1.00[AMR][1000 genomes] |
| rs57483889 | 1.00[AMR][1000 genomes] |
| rs6668045 | 1.00[AFR][1000 genomes] |
| rs6672121 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6681360 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6688957 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6696283 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7521354 | 1.00[AFR][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 | nsv997685 | chr1:220993527-221863416 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv535299 | chr1:220993527-221863416 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 3 | nsv873199 | chr1:221136672-221451217 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
