Variant report
| Variant | rs12523819 |
|---|---|
| Chromosome Location | chr6:75611839-75611840 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:75610525..75612245-chr6:75914237..75915878,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111799 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:4)
| rs_ID | r2[population] |
|---|---|
| rs16820 | 0.89[ASN][1000 genomes] |
| rs4112828 | 0.89[ASN][1000 genomes] |
| rs6924936 | 0.89[ASN][1000 genomes] |
| rs72968419 | 0.89[ASN][1000 genomes] |
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 | nsv520746 | chr6:75211546-75691814 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv917283 | chr6:75234428-75641440 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | esv2757179 | chr6:75525739-75625251 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | esv2759443 | chr6:75525739-75625251 | Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv830696 | chr6:75538316-75734609 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv1032153 | chr6:75590017-75625051 | Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12523819 | COL12A1 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
