Variant report
| Variant | rs1323691 |
|---|---|
| Chromosome Location | chr13:76074273-76074274 |
| allele | G/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 | chr13:76074143..76076070-chr13:76123601..76125267,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000118939 | Chromatin interaction |
| ENSG00000261553 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs1570539 | 0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs1570540 | 0.82[ASN][1000 genomes] |
| rs1570541 | 0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs2328944 | 0.81[ASN][1000 genomes] |
| rs2328945 | 0.84[ASN][1000 genomes] |
| rs2328946 | 0.84[ASN][1000 genomes] |
| rs2328947 | 0.84[ASN][1000 genomes] |
| rs2876705 | 0.80[TSI][hapmap] |
| rs4142591 | 0.84[ASN][1000 genomes] |
| rs4883999 | 0.89[JPT][hapmap] |
| rs60343330 | 0.82[ASN][1000 genomes] |
| rs6562896 | 0.81[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs7318786 | 0.81[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs7335576 | 0.89[JPT][hapmap] |
| rs9318349 | 0.89[JPT][hapmap] |
| rs9565168 | 0.89[JPT][hapmap];0.80[ASN][1000 genomes] |
| rs9565170 | 0.83[ASN][1000 genomes] |
| rs9573555 | 0.89[JPT][hapmap] |
| rs9573566 | 0.82[ASN][1000 genomes] |
| rs9573567 | 0.82[ASN][1000 genomes] |
| rs9573571 | 0.84[ASN][1000 genomes] |
| rs961631 | 0.84[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2761803 | chr13:75943309-76161774 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv455987 | chr13:75972846-76090084 | Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv562346 | chr13:75972846-76090084 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 4 | nsv900562 | chr13:76072743-76176680 | Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1323691 | COMMD6 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:76073800-76074600 | Enhancers | Fetal Brain Female | brain |
