Variant report
| Variant | rs72739688 |
|---|---|
| Chromosome Location | chr1:185003371-185003372 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:185002898..185006050-chr1:185012086..185014669,3 | MCF-7 | breast: | |
| 2 | chr1:185000396..185004587-chr1:185007338..185010464,3 | K562 | blood: | |
| 3 | chr1:184999264..185001806-chr1:185002551..185005032,2 | K562 | blood: | |
| 4 | chr1:185002306..185004011-chr1:185022303..185025099,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000121481 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:6)
| rs_ID | r2[population] |
|---|---|
| rs12024723 | 0.93[EUR][1000 genomes] |
| rs56381620 | 0.88[EUR][1000 genomes] |
| rs6684708 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs6694692 | 0.86[EUR][1000 genomes] |
| rs72739686 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs7529637 | 0.91[AMR][1000 genomes];0.89[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1001323 | chr1:184525419-185315876 | Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 69 gene(s) | inside rSNPs | diseases |
| 2 | nsv535222 | chr1:184525419-185315876 | Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 69 gene(s) | inside rSNPs | diseases |
| 3 | nsv525731 | chr1:184812165-185038104 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv522073 | chr1:184986725-185013349 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | n/a |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
