Variant report
| Variant | rs9360664 |
|---|---|
| Chromosome Location | chr6:74041424-74041425 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:74023411..74025387-chr6:74040340..74041969,2 | K562 | blood: | |
| 2 | 6:74039397-74041926..6:74160392-74184826 | K562 | blood: | |
| 3 | 6:74039397-74041926..6:74078047-74099067 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 6:74039397-74041926..6:74099986-74112890 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000238464 | Chromatin interaction |
| ENSG00000207023 | Chromatin interaction |
| ENSG00000135297 | Chromatin interaction |
| ENSG00000224221 | Chromatin interaction |
| ENSG00000203907 | Chromatin interaction |
| ENSG00000231332 | Chromatin interaction |
| ENSG00000080007 | Chromatin interaction |
| ENSG00000235174 | Chromatin interaction |
| ENSG00000164430 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:2)
| rs_ID | r2[population] |
|---|---|
| rs12214703 | 1.00[ASW][hapmap] |
| rs9360663 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | esv3410973 | chr6:73716033-74419545 | Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 191 gene(s) | inside rSNPs | diseases |
| 2 | nsv518874 | chr6:74014468-74041424 | Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 3 | nsv970337 | chr6:74034657-74048673 | Enhancers Weak transcription | TF binding regionChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9360664 | KCNQ5 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:74039600-74044200 | Weak transcription | Right Atrium | heart |
