Variant report
| Variant | rs3913039 |
|---|---|
| Chromosome Location | chr12:63450682-63450683 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- 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 | CTCF | chr12:63450619-63450697 | Hela-S3 | cervix: | n/a | n/a |
| 2 | CTCF | chr12:63450556-63450728 | LNCaP | prostate: | n/a | n/a |
| 3 | CTCF | chr12:63450510-63450690 | K562 | blood: | n/a | n/a |
| 4 | CTCF | chr12:63450580-63450730 | Caco-2 | colon: | n/a | n/a |
| 5 | CTCF | chr12:63450565-63450745 | LNCaP | prostate: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:63327630..63329589-chr12:63447421..63451204,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RSL24D1P5 | TF binding region |
| ENSG00000111110 | Chromatin interaction |
| ENSG00000252660 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:4)
| rs_ID | r2[population] |
|---|---|
| rs10784327 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12425328 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs3913041 | 0.81[CEU][hapmap] |
| rs7969362 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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 | esv3415227 | chr12:63228121-63591615 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv1046836 | chr12:63392391-64377169 | Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
| 3 | esv2751108 | chr12:63445933-63503952 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs3913039 | MARS | cis | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
