Variant report
| Variant | rs11610924 |
|---|---|
| Chromosome Location | chr12:40839060-40839061 |
| allele | A/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 12:40793507-40812339..12:40836437-40839614 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000205592 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11176809 | 0.81[AFR][1000 genomes];0.91[EUR][1000 genomes] |
| rs11176961 | 0.86[ASN][1000 genomes] |
| rs11613807 | 0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11614334 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12813279 | 0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12818027 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1388783 | 0.81[EUR][1000 genomes] |
| rs1463739 | 1.00[JPT][hapmap] |
| rs1492326 | 0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1492327 | 0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs17467410 | 0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs36106309 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs61913634 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs61913635 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs61916098 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7300780 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap] |
| rs7310404 | 0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | nsv832377 | chr12:40704881-40855223 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv899033 | chr12:40758652-41122288 | Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| 3 | nsv1039272 | chr12:40817585-40841318 | Enhancers | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv558606 | chr12:40837331-40863052 | Enhancers | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40839000-40841000 | Enhancers | Fetal Heart | heart |
