Variant report
| Variant | rs2463446 |
|---|---|
| Chromosome Location | chr12:120733672-120733673 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:120731520..120734276-chr17:57914284..57916496,2 | MCF-7 | breast: | |
| 2 | chr12:120548888..120559202-chr12:120724492..120734002,35 | MCF-7 | breast: | |
| 3 | chr12:120732594..120735445-chr12:120753350..120755602,3 | K562 | blood: | |
| 4 | chr12:120657004..120683911-chr12:120723753..120737731,232 | K562 | blood: | |
| 5 | chr12:120656223..120689871-chr12:120720394..120738112,311 | MCF-7 | breast: | |
| 6 | chr12:120631139..120640506-chr12:120724902..120734482,54 | K562 | blood: | |
| 7 | chr12:120642171..120684465-chr12:120719749..120734210,267 | K562 | blood: | |
| 8 | chr12:120733219..120735445-chr12:120753704..120755602,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RNU4-1 | TF binding region |
| RNU4-2 | TF binding region |
| ENSG00000089157 | Chromatin interaction |
| ENSG00000089159 | Chromatin interaction |
| ENSG00000089154 | Chromatin interaction |
| ENSG00000062716 | Chromatin interaction |
| ENSG00000240925 | Chromatin interaction |
| ENSG00000111737 | Chromatin interaction |
| ENSG00000255857 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs1185209 | 0.96[EUR][1000 genomes] |
| rs2701630 | 0.93[ASN][1000 genomes] |
| rs7294425 | 0.82[ASN][1000 genomes] |
| rs7298516 | 0.86[ASN][1000 genomes] |
| rs965791 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 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 | nsv832530 | chr12:120586069-120758175 | Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 484 gene(s) | inside rSNPs | diseases |
| 3 | 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 |
| 4 | 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 |
| 5 | nsv560435 | chr12:120695141-120769657 | Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 433 gene(s) | inside rSNPs | diseases |
| 6 | 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 |
| 7 | esv1799498 | chr12:120725939-120745740 | Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 429 gene(s) | inside rSNPs | diseases |
| 8 | esv2763006 | chr12:120731346-120750746 | Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 96 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120731400-120734400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 2 | chr12:120731400-120739800 | Weak transcription | Right Atrium | heart |
| 3 | chr12:120731400-120740000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
