Variant report
| Variant | rs16840571 |
|---|---|
| Chromosome Location | chr2:209014903-209014904 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFK | chr2:209014840-209015157 | IMR90 | lung: | n/a | chr2:209015006-209015026 |
| 2 | MAFK | chr2:209014850-209015191 | HepG2 | liver: | n/a | chr2:209015006-209015026 |
| 3 | MAFF | chr2:209014842-209015191 | HepG2 | liver: | n/a | chr2:209015003-209015021 |
| 4 | MAFK | chr2:209014833-209015196 | HepG2 | liver: | n/a | chr2:209015006-209015026 |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:209009911..209012697-chr2:209012960..209014950,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CRYGB | TF binding region |
| ENSG00000182187 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11898493 | 1.00[AMR][1000 genomes] |
| rs16840549 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16840567 | 1.00[AMR][1000 genomes] |
| rs16840588 | 1.00[AMR][1000 genomes] |
| rs16840591 | 1.00[AMR][1000 genomes] |
| rs16840598 | 1.00[AMR][1000 genomes] |
| rs16840602 | 1.00[AMR][1000 genomes] |
| rs16840606 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs16840611 | 1.00[AMR][1000 genomes] |
| rs7561755 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7561834 | 1.00[AMR][1000 genomes] |
| rs7579850 | 1.00[AMR][1000 genomes] |
| rs7587800 | 1.00[AMR][1000 genomes] |
| rs7588250 | 1.00[AMR][1000 genomes] |
| rs7593859 | 1.00[AMR][1000 genomes] |
| rs7593938 | 1.00[AMR][1000 genomes] |
| rs7594369 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1010531 | chr2:208610639-209176782 | Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
| 2 | nsv536130 | chr2:208610639-209176782 | Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
| 3 | nsv534496 | chr2:208814372-209302791 | Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| 4 | nsv875747 | chr2:208990345-209042963 | Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 5 | nsv875748 | chr2:208994399-209033557 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 6 | nsv834517 | chr2:209006797-209170269 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:209013000-209020600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
