Variant report
| Variant | rs7136434 |
|---|---|
| Chromosome Location | chr12:40538157-40538158 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000260943 | TF binding region |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs11564133 | 1.00[YRI][hapmap] |
| rs1388599 | 1.00[YRI][hapmap] |
| rs1491937 | 1.00[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs17483628 | 1.00[YRI][hapmap] |
| rs2404574 | 1.00[YRI][hapmap] |
| rs4423250 | 1.00[YRI][hapmap] |
| rs7953268 | 1.00[AMR][1000 genomes] |
| rs7971935 | 1.00[YRI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv558596 | chr12:40413698-40591117 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | esv1836585 | chr12:40492814-40540939 | Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | esv1839483 | chr12:40492814-40540939 | Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv899030 | chr12:40509341-40580440 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 5 | nsv899031 | chr12:40520684-40580440 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 6 | nsv519063 | chr12:40536061-40538858 | Enhancers Weak transcription | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40532800-40543800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
