Variant report
| Variant | rs11182288 |
|---|---|
| Chromosome Location | chr12:44218853-44218854 |
| allele | A/C/G/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:44199294..44201327-chr12:44217339..44218897,2 | MCF-7 | breast: | |
| 2 | chr12:44216999..44219539-chr12:44220290..44222155,2 | MCF-7 | breast: | |
| 3 | chr12:44211292..44214632-chr12:44215797..44219471,3 | K562 | blood: | |
| 4 | chr12:44199160..44201447-chr12:44218209..44220923,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000151239 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs10880569 | 0.90[ASN][1000 genomes] |
| rs10880570 | 0.85[CHB][hapmap];0.90[ASN][1000 genomes] |
| rs10880574 | 0.85[CHB][hapmap];0.84[ASN][1000 genomes] |
| rs11182268 | 1.00[CHB][hapmap];0.84[ASN][1000 genomes] |
| rs11182269 | 0.85[CHB][hapmap];0.84[ASN][1000 genomes] |
| rs11182270 | 0.84[ASN][1000 genomes] |
| rs11182279 | 0.84[ASN][1000 genomes] |
| rs11182281 | 0.95[ASN][1000 genomes] |
| rs11182282 | 0.90[ASN][1000 genomes] |
| rs11182284 | 1.00[ASN][1000 genomes] |
| rs11182286 | 0.92[ASN][1000 genomes] |
| rs11182287 | 0.89[ASN][1000 genomes] |
| rs11182289 | 0.82[CHB][hapmap];0.89[ASN][1000 genomes] |
| rs11182291 | 0.82[ASN][1000 genomes] |
| rs11556066 | 0.84[ASN][1000 genomes] |
| rs11608602 | 0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs12226960 | 0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs12228995 | 0.87[ASN][1000 genomes] |
| rs12230695 | 0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs12231553 | 0.85[CHB][hapmap];0.84[ASN][1000 genomes] |
| rs12829856 | 0.84[ASN][1000 genomes] |
| rs13377809 | 0.85[CEU][hapmap] |
| rs1816854 | 0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
| rs28437935 | 0.85[ASN][1000 genomes] |
| rs35980560 | 0.84[ASN][1000 genomes] |
| rs56322120 | 0.86[AMR][1000 genomes] |
| rs61290421 | 0.81[ASN][1000 genomes] |
| rs61567111 | 0.81[AMR][1000 genomes] |
| rs61930676 | 0.86[AMR][1000 genomes] |
| rs61933176 | 0.81[AMR][1000 genomes] |
| rs61933177 | 0.81[AMR][1000 genomes] |
| rs61933180 | 0.81[AMR][1000 genomes] |
| rs73093785 | 0.84[ASN][1000 genomes] |
| rs7966902 | 0.90[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv933142 | chr12:44130156-44278300 | Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv899048 | chr12:44209423-44307888 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:44208400-44223600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:44218200-44220200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 3 | chr12:44218600-44220000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
