Variant report
| Variant | rs7488103 |
|---|---|
| Chromosome Location | chr12:87846416-87846417 |
| allele | A/C |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:87838924..87840559-chr12:87844144..87846635,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11830580 | 1.00[AMR][1000 genomes] |
| rs11833127 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11833186 | 1.00[AMR][1000 genomes] |
| rs11833327 | 1.00[AMR][1000 genomes] |
| rs11833396 | 1.00[AMR][1000 genomes] |
| rs11833404 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11833982 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11835435 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11835810 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11837886 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11838093 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2406762 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4312139 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4420359 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs56055922 | 1.00[AMR][1000 genomes] |
| rs7955773 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7972221 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv430523 | chr12:87757132-87865832 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv430525 | chr12:87757132-87905532 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv559701 | chr12:87801947-87905878 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:87838200-87848400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
