Variant report
| Variant | rs72949105 |
|---|---|
| Chromosome Location | chr2:58219624-58219625 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:58219444..58221861-chr2:58272134..58274899,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000028116 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs17049283 | 0.95[AFR][1000 genomes] |
| rs17049289 | 1.00[AFR][1000 genomes] |
| rs2312146 | 0.95[AFR][1000 genomes] |
| rs72947177 | 0.95[AFR][1000 genomes] |
| rs72947181 | 0.83[AFR][1000 genomes] |
| rs72947186 | 1.00[AFR][1000 genomes] |
| rs72947188 | 1.00[AFR][1000 genomes] |
| rs72947190 | 1.00[AFR][1000 genomes] |
| rs72947193 | 0.95[AFR][1000 genomes] |
| rs72947197 | 0.85[AFR][1000 genomes] |
| rs72949103 | 1.00[AFR][1000 genomes] |
| rs72949133 | 0.83[AFR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv874196 | chr2:57946148-58220320 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv834159 | chr2:58101262-58283655 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 3 | nsv525988 | chr2:58161520-58427786 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
| 4 | nsv874200 | chr2:58163178-58262016 | Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv458041 | chr2:58196110-58237724 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv582096 | chr2:58196110-58237724 | ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 7 | nsv999591 | chr2:58214871-58316147 | Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:58217600-58220600 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr2:58219600-58220000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
