Variant report
| Variant | rs28968501 |
|---|---|
| Chromosome Location | chr2:234493669-234493670 |
| allele | A/G |
| 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 | 2:234492023-234494396..2:234743181-234749667 | Hela-S3 | cervix: | |
| 2 | chr2:234475176..234476679-chr2:234491140..234493711,2 | MCF-7 | breast: | |
| 3 | 2:234492023-234494396..2:234543708-234558325 | GM12878 | blood: | |
| 4 | 2:234492023-234494396..2:234954947-234965240 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000242515 | Chromatin interaction |
| ENSG00000234143 | Chromatin interaction |
| ENSG00000123485 | Chromatin interaction |
| ENSG00000085982 | Chromatin interaction |
| ENSG00000072080 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs28948380 | 1.00[AMR][1000 genomes] |
| rs28966994 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs28968511 | 1.00[AMR][1000 genomes] |
| rs28968512 | 1.00[AMR][1000 genomes] |
| rs28968514 | 1.00[AMR][1000 genomes] |
| rs59123908 | 1.00[AMR][1000 genomes] |
| rs61158161 | 1.00[AMR][1000 genomes] |
| rs6431482 | 1.00[AMR][1000 genomes] |
| rs73996106 | 1.00[AMR][1000 genomes] |
| rs73996128 | 1.00[AMR][1000 genomes] |
| rs73996129 | 1.00[AMR][1000 genomes] |
| rs73997634 | 1.00[AMR][1000 genomes] |
| rs73997635 | 1.00[AMR][1000 genomes] |
| rs73997639 | 1.00[AMR][1000 genomes] |
| rs73997640 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529419 | chr2:234229606-234670426 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv876013 | chr2:234338227-234579915 | Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv428072 | chr2:234393609-234624769 | Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 4 | esv11149 | chr2:234492605-234501401 | Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 5 | esv1801264 | chr2:234492805-234500262 | Enhancers Active TSS Weak transcription Bivalent Enhancer | TF binding regionChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 6 | esv1802734 | chr2:234492805-234500262 | Enhancers Bivalent Enhancer Active TSS Weak transcription | TF binding regionChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 7 | nsv522661 | chr2:234493048-234496945 | Enhancers Active TSS Weak transcription | TF binding regionChromatin interactive region | 12 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:234486400-234494800 | Weak transcription | A549 | lung |
| 2 | chr2:234493000-234494200 | Enhancers | Spleen | Spleen |
