Variant report
| Variant | rs56237802 |
|---|---|
| Chromosome Location | chr12:120771983-120771984 |
| allele | A/C/T |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120769968..120772533-chr12:120880637..120882245,2 | MCF-7 | breast: | |
| 2 | chr12:120728111..120731596-chr12:120769746..120773066,4 | MCF-7 | breast: | |
| 3 | chr12:120753886..120756073-chr12:120770062..120773439,3 | MCF-7 | breast: | |
| 4 | chr12:120728653..120730426-chr12:120770382..120773343,2 | MCF-7 | breast: | |
| 5 | chr12:120729774..120732579-chr12:120768801..120772548,3 | K562 | blood: | |
| 6 | chr12:120769575..120771391-chr12:120771814..120774515,3 | K562 | blood: | |
| 7 | chr12:120768949..120771391-chr12:120771814..120774934,3 | K562 | blood: | |
| 8 | chr12:120771969..120773509-chr12:120874917..120877639,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000200795 | Chromatin interaction |
| ENSG00000111780 | Chromatin interaction |
| ENSG00000202538 | Chromatin interaction |
| ENSG00000111775 | Chromatin interaction |
| rs_ID | r2[population] |
|---|---|
| rs12299143 | 0.83[ASN][1000 genomes] |
| rs12423303 | 0.88[ASN][1000 genomes] |
| rs12424233 | 0.93[ASN][1000 genomes] |
| rs12424555 | 0.86[ASN][1000 genomes] |
| rs12425936 | 0.91[ASN][1000 genomes] |
| rs12426900 | 0.91[ASN][1000 genomes] |
| rs12427069 | 0.88[ASN][1000 genomes] |
| rs12427095 | 0.91[ASN][1000 genomes] |
| rs16950058 | 0.86[ASN][1000 genomes] |
| rs16950061 | 0.86[ASN][1000 genomes] |
| rs16950065 | 0.86[ASN][1000 genomes] |
| rs16950101 | 0.93[ASN][1000 genomes] |
| rs2238158 | 0.91[ASN][1000 genomes] |
| rs2238161 | 0.91[ASN][1000 genomes] |
| rs2522140 | 0.80[ASN][1000 genomes] |
| rs2701643 | 0.86[ASN][1000 genomes] |
| rs3898618 | 0.93[ASN][1000 genomes] |
| rs5634 | 0.86[ASN][1000 genomes] |
| rs56733641 | 0.91[ASN][1000 genomes] |
| rs57141366 | 0.93[ASN][1000 genomes] |
| rs57279831 | 0.93[ASN][1000 genomes] |
| rs57384430 | 0.86[ASN][1000 genomes] |
| rs58232894 | 0.91[ASN][1000 genomes] |
| rs59768240 | 0.93[ASN][1000 genomes] |
| rs60176939 | 0.85[ASN][1000 genomes] |
| rs61592165 | 0.93[ASN][1000 genomes] |
| rs61665022 | 0.86[ASN][1000 genomes] |
| rs61748115 | 0.86[ASN][1000 genomes] |
| rs7960401 | 0.86[ASN][1000 genomes] |
| rs7977875 | 0.88[ASN][1000 genomes] |
| rs9657936 | 0.86[ASN][1000 genomes] |
| rs9657937 | 0.85[ASN][1000 genomes] |
| rs9657941 | 0.86[ASN][1000 genomes] |
| rs9657942 | 0.86[ASN][1000 genomes] |
| rs9657948 | 0.80[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv899555 | chr12:120519124-120840522 | Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 499 gene(s) | inside rSNPs | diseases |
| 2 | nsv1035698 | chr12:120645330-120777580 | Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 436 gene(s) | inside rSNPs | diseases |
| 3 | nsv1047447 | chr12:120645330-120808621 | Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 436 gene(s) | inside rSNPs | diseases |
| 4 | nsv899556 | chr12:120695141-120779931 | Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 433 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120764000-120773800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr12:120764000-120783800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 3 | chr12:120764000-120799200 | Weak transcription | Right Atrium | heart |
| 4 | chr12:120766200-120779200 | Weak transcription | Liver | Liver |
| 5 | chr12:120769400-120785000 | Weak transcription | Gastric | stomach |





