Variant report
| Variant | rs59406591 |
|---|---|
| Chromosome Location | chr5:178218394-178218395 |
| allele | A/G |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000250420 | Chromatin interaction |
| rs_ID | r2[population] |
|---|---|
| rs10794696 | 0.86[EUR][1000 genomes] |
| rs11249573 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11249577 | 0.80[EUR][1000 genomes] |
| rs11249578 | 0.82[EUR][1000 genomes] |
| rs11737921 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11955306 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13158304 | 0.90[EUR][1000 genomes] |
| rs13167830 | 0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13177350 | 0.85[EUR][1000 genomes] |
| rs13182067 | 1.00[ASN][1000 genomes] |
| rs13185217 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13186608 | 1.00[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34397660 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34557468 | 0.82[EUR][1000 genomes] |
| rs34727982 | 0.86[EUR][1000 genomes] |
| rs35041056 | 0.86[EUR][1000 genomes] |
| rs35494943 | 1.00[ASN][1000 genomes] |
| rs35506175 | 0.84[EUR][1000 genomes] |
| rs4073865 | 0.80[EUR][1000 genomes] |
| rs4700791 | 0.82[EUR][1000 genomes] |
| rs4700792 | 0.86[EUR][1000 genomes] |
| rs4700795 | 0.86[EUR][1000 genomes] |
| rs4701033 | 1.00[ASN][1000 genomes] |
| rs4701066 | 0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4701097 | 0.85[EUR][1000 genomes] |
| rs60372900 | 0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62393903 | 0.95[AFR][1000 genomes];0.80[AMR][1000 genomes] |
| rs66583878 | 0.86[EUR][1000 genomes] |
| rs6876756 | 0.80[EUR][1000 genomes] |
| rs7444923 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7711127 | 0.86[EUR][1000 genomes] |
| rs9686220 | 0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1031666 | chr5:177988601-178236068 | Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv1031206 | chr5:178149292-178283614 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv537973 | chr5:178149292-178283614 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv462573 | chr5:178180299-178241495 | Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv600452 | chr5:178180299-178241495 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 6 | esv12687 | chr5:178218220-178220656 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:178166600-178224000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr5:178218000-178220400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 3 | chr5:178218000-178220400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 4 | chr5:178218000-178220800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |





