Variant report
| Variant | rs11118590 |
|---|---|
| Chromosome Location | chr1:220846275-220846276 |
| allele | A/G |
| 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 | chr1:220843694..220846448-chr1:220920771..220922652,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000117791 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs11118581 | 1.00[AMR][1000 genomes] |
| rs11118583 | 1.00[AMR][1000 genomes] |
| rs12082031 | 0.85[AMR][1000 genomes] |
| rs12087717 | 1.00[AMR][1000 genomes] |
| rs12095659 | 1.00[AMR][1000 genomes] |
| rs1337570 | 1.00[AMR][1000 genomes] |
| rs1361092 | 0.85[AMR][1000 genomes] |
| rs1361093 | 1.00[AMR][1000 genomes] |
| rs1538135 | 1.00[AMR][1000 genomes] |
| rs17008205 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1856178 | 0.85[AMR][1000 genomes] |
| rs1890107 | 0.85[AMR][1000 genomes] |
| rs2095670 | 0.85[AMR][1000 genomes] |
| rs2210977 | 1.00[AMR][1000 genomes] |
| rs2589582 | 1.00[AMR][1000 genomes] |
| rs2589587 | 0.85[AMR][1000 genomes] |
| rs2589591 | 1.00[AMR][1000 genomes] |
| rs2589593 | 1.00[AMR][1000 genomes] |
| rs2786599 | 1.00[AMR][1000 genomes] |
| rs2786603 | 1.00[AMR][1000 genomes] |
| rs2786608 | 0.85[AMR][1000 genomes] |
| rs2786611 | 1.00[AMR][1000 genomes] |
| rs2786615 | 1.00[AMR][1000 genomes] |
| rs2786618 | 0.85[AMR][1000 genomes] |
| rs3010236 | 1.00[AMR][1000 genomes] |
| rs4846656 | 1.00[AMR][1000 genomes] |
| rs6702294 | 1.00[AMR][1000 genomes] |
| rs7520040 | 1.00[AMR][1000 genomes] |
| rs7521698 | 1.00[AMR][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 | nsv468194 | chr1:220845610-220885612 | Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv549227 | chr1:220845610-220885612 | Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:220829400-220847200 | Weak transcription | Right Ventricle | heart |
| 2 | chr1:220845800-220848000 | Enhancers | Fetal Heart | heart |
