Variant report
| Variant | rs10817988 |
|---|---|
| Chromosome Location | chr9:100486691-100486692 |
| 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 | chr9:100480674..100483581-chr9:100484932..100487285,2 | K562 | blood: | |
| 2 | chr9:100483705..100485989-chr9:100486600..100490449,4 | K562 | blood: | |
| 3 | chr9:100478863..100481337-chr9:100486347..100488581,2 | MCF-7 | breast: | |
| 4 | chr9:100485962..100487787-chr9:100745027..100747172,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000136938 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs10983513 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10983546 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11792527 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12375515 | 0.98[ASN][1000 genomes] |
| rs1355599 | 0.82[ASN][1000 genomes] |
| rs16923900 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2805827 | 0.81[ASN][1000 genomes] |
| rs2808672 | 0.80[ASN][1000 genomes] |
| rs2808679 | 0.82[ASN][1000 genomes] |
| rs2808680 | 0.82[ASN][1000 genomes] |
| rs2808692 | 0.86[ASN][1000 genomes] |
| rs7849815 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs953199 | 0.93[AMR][1000 genomes];0.98[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 | nsv893610 | chr9:100324086-100496160 | Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
| 2 | nsv1043753 | chr9:100458109-100599265 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv614934 | chr9:100482976-100550253 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:100486200-100486800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
