Variant report
| Variant | rs1788311 |
|---|---|
| Chromosome Location | chr21:28518995-28518996 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr21:28518428-28519018 | GM12878 | blood: | n/a | chr21:28518785-28518796 chr21:28518784-28518798 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| GPX1P2 | TF binding region |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs1788314 | 1.00[CEU][hapmap] |
| rs235968 | 0.84[EUR][1000 genomes] |
| rs235980 | 0.84[EUR][1000 genomes] |
| rs2830690 | 1.00[MKK][hapmap] |
| rs2830729 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs28460881 | 0.89[EUR][1000 genomes] |
| rs377476 | 1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs423416 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs432380 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs928267 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs928269 | 0.84[EUR][1000 genomes] |
| rs9305302 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs9305303 | 0.81[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1067475 | chr21:28238746-29046707 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
| 2 | esv2758532 | chr21:28380230-28540443 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 3 | esv2758817 | chr21:28380230-28540443 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 4 | nsv1062808 | chr21:28443252-28537209 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| 5 | nsv544414 | chr21:28443252-28537209 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
