Variant report
| Variant | rs10459219 |
|---|---|
| Chromosome Location | chr12:49466566-49466567 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:49446392..49469923-chr12:49518127..49527853,66 | K562 | blood: | |
| 2 | chr12:49466463..49468840-chr12:49658168..49659718,2 | K562 | blood: | |
| 3 | chr12:49464358..49466907-chr12:49658719..49661076,2 | MCF-7 | breast: | |
| 4 | chr12:49462517..49467862-chr12:49502773..49505660,4 | MCF-7 | breast: | |
| 5 | chr12:49440399..49469923-chr12:49518291..49528303,83 | K562 | blood: | |
| 6 | chr12:49460491..49475559-chr12:49480736..49489831,23 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000167553 | Chromatin interaction |
| ENSG00000139549 | Chromatin interaction |
| ENSG00000258101 | Chromatin interaction |
| ENSG00000258017 | Chromatin interaction |
| ENSG00000257346 | Chromatin interaction |
| ENSG00000139636 | Chromatin interaction |
| ENSG00000123416 | Chromatin interaction |
| ENSG00000200309 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:3)
| rs_ID | r2[population] |
|---|---|
| rs12321484 | 1.00[LWK][hapmap] |
| rs2024 | 1.00[LWK][hapmap] |
| rs3741624 | 1.00[LWK][hapmap] |
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 | nsv1051161 | chr12:49314550-49828473 | Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 322 gene(s) | inside rSNPs | diseases |
| 2 | nsv541489 | chr12:49314550-49828473 | Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 322 gene(s) | inside rSNPs | diseases |
| 3 | nsv558833 | chr12:49358880-49478812 | Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 69 gene(s) | inside rSNPs | diseases |
| 4 | nsv1036452 | chr12:49376285-49867760 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 315 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:49466400-49471600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
