Variant report
| Variant | rs55973281 |
|---|---|
| Chromosome Location | chr12:64665901-64665902 |
| allele | C/G |
| 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 | chr12:64173521..64175190-chr12:64665547..64667605,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000118600 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:38)
| rs_ID | r2[population] |
|---|---|
| rs10735923 | 1.00[EUR][1000 genomes] |
| rs10784399 | 1.00[EUR][1000 genomes] |
| rs11831579 | 1.00[EUR][1000 genomes] |
| rs11836616 | 1.00[EUR][1000 genomes] |
| rs1347577 | 1.00[EUR][1000 genomes] |
| rs1613429 | 1.00[EUR][1000 genomes] |
| rs1708205 | 1.00[EUR][1000 genomes] |
| rs17100200 | 1.00[EUR][1000 genomes] |
| rs17100256 | 1.00[EUR][1000 genomes] |
| rs17100259 | 1.00[EUR][1000 genomes] |
| rs1836865 | 1.00[EUR][1000 genomes] |
| rs1865799 | 1.00[EUR][1000 genomes] |
| rs2335358 | 1.00[EUR][1000 genomes] |
| rs2878282 | 1.00[EUR][1000 genomes] |
| rs4237926 | 1.00[EUR][1000 genomes] |
| rs4503636 | 1.00[EUR][1000 genomes] |
| rs4606564 | 1.00[EUR][1000 genomes] |
| rs4763013 | 1.00[EUR][1000 genomes] |
| rs56011088 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs56784792 | 1.00[EUR][1000 genomes] |
| rs58160282 | 1.00[EUR][1000 genomes] |
| rs59450427 | 1.00[EUR][1000 genomes] |
| rs60195424 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs60242151 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73311817 | 1.00[EUR][1000 genomes] |
| rs73311823 | 1.00[EUR][1000 genomes] |
| rs73311828 | 1.00[EUR][1000 genomes] |
| rs73325081 | 1.00[EUR][1000 genomes] |
| rs73325098 | 1.00[EUR][1000 genomes] |
| rs73327118 | 1.00[EUR][1000 genomes] |
| rs73327129 | 1.00[EUR][1000 genomes] |
| rs73327138 | 1.00[EUR][1000 genomes] |
| rs73327148 | 1.00[EUR][1000 genomes] |
| rs73327152 | 1.00[EUR][1000 genomes] |
| rs73327153 | 1.00[EUR][1000 genomes] |
| rs7973979 | 1.00[EUR][1000 genomes] |
| rs7974953 | 1.00[EUR][1000 genomes] |
| rs9888445 | 1.00[EUR][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 | esv3351487 | chr12:64420364-64763950 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
| 2 | esv3509287 | chr12:64526217-64736995 | Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 27 gene(s) | inside rSNPs | diseases |
| 3 | esv3509288 | chr12:64526217-64736995 | ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 27 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:64651000-64667800 | Weak transcription | Placenta | Placenta |
| 2 | chr12:64662400-64667200 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 3 | chr12:64663400-64667800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr12:64665600-64666000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
