Variant report
| Variant | rs73096507 |
|---|---|
| Chromosome Location | chr12:39933641-39933642 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- 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 | chr12:39835315..39837704-chr12:39933049..39935834,3 | K562 | blood: |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ABCD2-2 | chr12:39933383-39933653 | NONHSAT027706 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000139116 | Chromatin interaction |
| ENSG00000252974 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:39)
| rs_ID | r2[population] |
|---|---|
| rs1567738 | 1.00[AMR][1000 genomes] |
| rs73086879 | 1.00[AMR][1000 genomes] |
| rs73086887 | 1.00[AMR][1000 genomes] |
| rs73086888 | 1.00[AMR][1000 genomes] |
| rs73086895 | 1.00[AMR][1000 genomes] |
| rs73086896 | 1.00[AMR][1000 genomes] |
| rs73088803 | 1.00[AMR][1000 genomes] |
| rs73088804 | 1.00[AMR][1000 genomes] |
| rs73088806 | 1.00[AMR][1000 genomes] |
| rs73088808 | 1.00[AMR][1000 genomes] |
| rs73088811 | 1.00[AMR][1000 genomes] |
| rs73088812 | 1.00[AMR][1000 genomes] |
| rs73094416 | 1.00[AMR][1000 genomes] |
| rs73094426 | 1.00[AMR][1000 genomes] |
| rs73094430 | 1.00[AMR][1000 genomes] |
| rs73094441 | 1.00[AMR][1000 genomes] |
| rs73094443 | 1.00[AMR][1000 genomes] |
| rs73094451 | 1.00[AMR][1000 genomes] |
| rs73094465 | 1.00[AMR][1000 genomes] |
| rs73094466 | 1.00[AMR][1000 genomes] |
| rs73094469 | 1.00[AMR][1000 genomes] |
| rs73094480 | 1.00[AMR][1000 genomes] |
| rs73094482 | 1.00[AMR][1000 genomes] |
| rs73094497 | 1.00[AMR][1000 genomes] |
| rs73094498 | 1.00[AMR][1000 genomes] |
| rs73094499 | 1.00[AMR][1000 genomes] |
| rs73094502 | 1.00[AMR][1000 genomes] |
| rs73096503 | 1.00[AMR][1000 genomes] |
| rs73096504 | 1.00[AMR][1000 genomes] |
| rs73096509 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096513 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096521 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096524 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096528 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096539 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096542 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73096551 | 1.00[AMR][1000 genomes] |
| rs73096571 | 1.00[AMR][1000 genomes] |
| rs73096578 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv531527 | chr12:39680812-40182822 | Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv1048933 | chr12:39886665-39946270 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1037457 | chr12:39898349-40245401 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv541480 | chr12:39898349-40245401 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| 5 | nsv1039645 | chr12:39903123-40022029 | Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:39926000-39934600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 2 | chr12:39932200-39933800 | Active TSS | K562 | blood |
| 3 | chr12:39933000-39933800 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 4 | chr12:39933000-39933800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 5 | chr12:39933200-39934000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
