Variant report
| Variant | rs73149738 |
|---|---|
| Chromosome Location | chr12:84059781-84059782 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EP300 | chr12:84059210-84060826 | SK-N-SH | brain: | n/a | chr12:84059787-84059800 chr12:84059316-84059323 |
| 2 | POLR2A | chr12:84059428-84059805 | H1-neurons | neurons: | n/a | n/a |
| 3 | POLR2A | chr12:84059449-84059801 | H1-neurons | neurons: | n/a | n/a |
| 4 | EP300 | chr12:84059482-84060023 | SK-N-SH_RA | brain: | n/a | chr12:84059787-84059800 |
| 5 | EP300 | chr12:84059508-84060002 | SK-N-SH_RA | brain: | n/a | chr12:84059787-84059800 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257124 | TF binding region |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs1156936 | 1.00[ASN][1000 genomes] |
| rs1304347 | 1.00[ASN][1000 genomes] |
| rs17011014 | 1.00[ASN][1000 genomes] |
| rs2036148 | 1.00[ASN][1000 genomes] |
| rs2036149 | 1.00[ASN][1000 genomes] |
| rs7136287 | 1.00[ASN][1000 genomes] |
| rs7137518 | 0.96[ASN][1000 genomes] |
| rs73147867 | 1.00[ASN][1000 genomes] |
| rs73147868 | 0.98[ASN][1000 genomes] |
| rs73149739 | 0.98[ASN][1000 genomes] |
| rs73149744 | 1.00[ASN][1000 genomes] |
| rs73149792 | 0.96[ASN][1000 genomes] |
| rs73151860 | 0.96[ASN][1000 genomes] |
| rs73161108 | 1.00[ASN][1000 genomes] |
| rs73161109 | 1.00[ASN][1000 genomes] |
| rs73161127 | 1.00[ASN][1000 genomes] |
| rs73161137 | 1.00[ASN][1000 genomes] |
| rs73161140 | 1.00[ASN][1000 genomes] |
| rs73161141 | 1.00[ASN][1000 genomes] |
| rs73161142 | 1.00[ASN][1000 genomes] |
| rs73161144 | 1.00[ASN][1000 genomes] |
| rs73161147 | 1.00[ASN][1000 genomes] |
| rs73161150 | 1.00[ASN][1000 genomes] |
| rs73161152 | 1.00[ASN][1000 genomes] |
| rs73161155 | 1.00[ASN][1000 genomes] |
| rs7955659 | 1.00[ASN][1000 genomes] |
| rs7962020 | 1.00[ASN][1000 genomes] |
| rs7968087 | 1.00[ASN][1000 genomes] |
| rs7979197 | 1.00[ASN][1000 genomes] |
| rs7979696 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv469496 | chr12:84014359-84074475 | Active TSS Enhancers Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv559562 | chr12:84014359-84074475 | Enhancers Weak transcription ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv559563 | chr12:84017043-84450824 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv899355 | chr12:84035467-84147295 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv1037138 | chr12:84035912-84429867 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 6 | nsv541553 | chr12:84035912-84429867 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 7 | nsv1035818 | chr12:84040289-84452115 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 8 | nsv559564 | chr12:84042109-84441408 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 9 | nsv1035252 | chr12:84043334-84446432 | ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 10 | nsv1041804 | chr12:84050772-84466603 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 11 | nsv1039889 | chr12:84053336-84426064 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 12 | nsv541554 | chr12:84053336-84426064 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:84059200-84060200 | Enhancers | Fetal Heart | heart |
