Variant report
| Variant | rs453611 |
|---|---|
| Chromosome Location | chr19:44444976-44444977 |
| 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 | chr19:44436895..44439895-chr19:44441989..44446594,5 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000124459 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs364378 | 0.87[AMR][1000 genomes] |
| rs364693 | 0.87[AMR][1000 genomes] |
| rs365769 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs367056 | 0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes] |
| rs367241 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs373043 | 0.80[YRI][hapmap];0.89[AMR][1000 genomes] |
| rs376769 | 0.87[AMR][1000 genomes] |
| rs379722 | 1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs382715 | 0.87[AMR][1000 genomes] |
| rs384432 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs393117 | 0.82[AFR][1000 genomes] |
| rs393403 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes] |
| rs393473 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes] |
| rs395143 | 0.80[AFR][1000 genomes];0.87[AMR][1000 genomes] |
| rs424364 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs441225 | 0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs442934 | 0.82[AFR][1000 genomes];0.89[AMR][1000 genomes] |
| rs446072 | 1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs452143 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs461374 | 0.87[AMR][1000 genomes] |
| rs465860 | 0.87[AMR][1000 genomes] |
| rs8101844 | 0.87[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 | nsv469650 | chr19:44405994-44555426 | Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv579854 | chr19:44411543-44490024 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
