Variant report
| Variant | rs73723512 |
|---|---|
| Chromosome Location | chr7:126494810-126494811 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 7:126085913-126088095..7:126492401-126497300 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000179603 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs11972390 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11973715 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11978791 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs11983585 | 1.00[AMR][1000 genomes] |
| rs56813278 | 1.00[AMR][1000 genomes] |
| rs58042731 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6948817 | 1.00[AMR][1000 genomes] |
| rs73720785 | 1.00[AMR][1000 genomes] |
| rs73720798 | 1.00[AMR][1000 genomes] |
| rs7796521 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529300 | chr7:125669493-126587858 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv1032938 | chr7:126067684-126587859 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv539119 | chr7:126067684-126587859 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | esv2761365 | chr7:126452758-126506602 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv608376 | chr7:126457779-126571077 | Enhancers Weak transcription ZNF genes & repeats Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv608377 | chr7:126478190-126512514 | Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 7 | esv2758132 | chr7:126494789-126677843 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 8 | esv2759562 | chr7:126494789-126677843 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 9 | nsv427805 | chr7:126494789-126677843 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:126493200-126495000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 2 | chr7:126494200-126496600 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
