Variant report
| Variant | rs9461344 |
|---|---|
| Chromosome Location | chr6:27212135-27212136 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | STAT3 | chr6:27211987-27212187 | MCF10A-Er-Src | breast: | n/a | n/a |
| 2 | POLR2A | chr6:27211650-27216394 | K562 | blood: | n/a | n/a |
| 3 | STAT3 | chr6:27211864-27212188 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:27208172..27214279-chr6:27217175..27221037,5 | MCF-7 | breast: | |
| 2 | chr6:27208791..27211821-chr6:27212133..27214069,3 | K562 | blood: | |
| 3 | chr6:27185879..27187963-chr6:27211296..27212822,2 | MCF-7 | breast: | |
| 4 | chr6:27203954..27208601-chr6:27209090..27212437,6 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PRSS16 | TF binding region |
| ENSG00000112812 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs11754427 | 1.00[CEU][hapmap] |
| rs11758636 | 1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes] |
| rs16896736 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17737641 | 1.00[ASN][1000 genomes] |
| rs2273565 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs41269253 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs5030963 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs5030964 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs5030965 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs55658856 | 1.00[ASN][1000 genomes] |
| rs56138318 | 1.00[ASN][1000 genomes] |
| rs56405355 | 0.83[ASN][1000 genomes] |
| rs73738224 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73738225 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73738704 | 0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73740444 | 0.94[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9295731 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9468007 | 1.00[CHB][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9468018 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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 | nsv948921 | chr6:26556890-27443957 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 472 gene(s) | inside rSNPs | diseases |
| 2 | nsv1017328 | chr6:27177147-27369588 | Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 3 | nsv883505 | chr6:27210614-27300580 | Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:27207000-27212200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr6:27211000-27214400 | Weak transcription | K562 | blood |
