Variant report
| Variant | rs17049243 |
|---|---|
| Chromosome Location | chr2:58131532-58131533 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- 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 | FOXA2 | chr2:58131481-58132004 | A549 | lung: | n/a | chr2:58131780-58131792 |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:58131028..58133565-chr2:58275828..58277987,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| VRK2 | TF binding region |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10189138 | 0.81[CEU][hapmap] |
| rs17049247 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17049270 | 0.90[CEU][hapmap];1.00[JPT][hapmap] |
| rs17049296 | 0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap] |
| rs17049298 | 0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap] |
| rs17049318 | 0.90[CEU][hapmap];1.00[JPT][hapmap] |
| rs17049334 | 0.81[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap] |
| rs17049339 | 0.81[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap] |
| rs17230816 | 0.81[EUR][1000 genomes] |
| rs17815124 | 0.85[EUR][1000 genomes] |
| rs17826430 | 0.90[EUR][1000 genomes] |
| rs2196806 | 0.90[CEU][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap] |
| rs3771204 | 0.90[CEU][hapmap];1.00[JPT][hapmap] |
| rs3771206 | 0.90[CEU][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap] |
| rs59159185 | 0.96[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs7577299 | 0.90[CEU][hapmap];1.00[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:5 , 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 | nsv1007118 | chr2:57562051-58147588 | Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | 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 |
| 3 | nsv1010981 | chr2:58013389-58205699 | Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv874199 | chr2:58031249-58161520 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | 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 |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:58131400-58132000 | Enhancers | A549 | lung |
