Variant report
| Variant | rs7966132 |
|---|---|
| Chromosome Location | chr12:40583885-40583886 |
| allele | A/T |
| 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 | 12:40583667-40584606..12:40703633-40711447 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188906 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10454013 | 0.84[ASN][1000 genomes] |
| rs10877929 | 0.81[ASN][1000 genomes] |
| rs11174735 | 0.81[ASN][1000 genomes] |
| rs11174998 | 0.82[ASN][1000 genomes] |
| rs11175021 | 0.82[ASN][1000 genomes] |
| rs11175027 | 0.82[ASN][1000 genomes] |
| rs11175090 | 0.81[ASN][1000 genomes] |
| rs11175094 | 0.81[ASN][1000 genomes] |
| rs11175106 | 0.80[ASN][1000 genomes] |
| rs11175409 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11175456 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11564157 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12230685 | 0.87[ASN][1000 genomes] |
| rs2101144 | 0.81[ASN][1000 genomes] |
| rs2201142 | 0.84[ASN][1000 genomes] |
| rs2708445 | 0.84[ASN][1000 genomes] |
| rs28370666 | 0.81[ASN][1000 genomes] |
| rs4533099 | 0.88[ASN][1000 genomes] |
| rs61933163 | 0.88[ASN][1000 genomes] |
| rs7135815 | 0.88[ASN][1000 genomes] |
| rs7301226 | 0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7953143 | 0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7966741 | 0.81[ASN][1000 genomes] |
| rs7973688 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7975693 | 0.86[AMR][1000 genomes];0.95[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 | nsv558596 | chr12:40413698-40591117 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045516 | chr12:40543200-40589557 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | n/a |
| 3 | nsv1044685 | chr12:40574460-40771612 | Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40582200-40584800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr12:40583800-40584400 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
