Variant report
| Variant | rs12623786 |
|---|---|
| Chromosome Location | chr2:142788546-142788547 |
| allele | C/T |
| 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 | chr2:142781371..142784151-chr2:142786704..142789682,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10496911 | 0.81[CHB][hapmap];0.81[JPT][hapmap] |
| rs12617185 | 1.00[EUR][1000 genomes] |
| rs12617190 | 1.00[EUR][1000 genomes] |
| rs12617257 | 0.93[EUR][1000 genomes] |
| rs12617281 | 0.85[AFR][1000 genomes];0.93[EUR][1000 genomes] |
| rs12617322 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12617486 | 0.81[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes] |
| rs12620001 | 0.81[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12623699 | 0.81[CHB][hapmap];1.00[YRI][hapmap] |
| rs13394203 | 0.81[CHB][hapmap] |
| rs16847916 | 1.00[EUR][1000 genomes] |
| rs16847932 | 0.83[CHB][hapmap];1.00[YRI][hapmap] |
| rs16847936 | 1.00[EUR][1000 genomes] |
| rs16847942 | 0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap] |
| rs2029143 | 0.81[ASN][1000 genomes] |
| rs59095262 | 1.00[EUR][1000 genomes] |
| rs6739226 | 1.00[AFR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | nsv530398 | chr2:142474842-142843839 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv997274 | chr2:142760393-143599193 | Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv526107 | chr2:142768518-142884248 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:142787800-142788800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
