Variant report
| Variant | rs13144044 |
|---|---|
| Chromosome Location | chr4:45082236-45082237 |
| allele | C/G |
| 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 | chr17:56707875..56710870-chr4:45081428..45084145,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000212195 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10805133 | 0.85[ASN][1000 genomes] |
| rs11731513 | 0.96[ASN][1000 genomes] |
| rs12696797 | 0.93[ASN][1000 genomes] |
| rs13113218 | 0.93[ASN][1000 genomes] |
| rs13142131 | 0.98[ASN][1000 genomes] |
| rs13143285 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs1849338 | 0.94[EUR][1000 genomes] |
| rs2089913 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2102594 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs34122438 | 1.00[ASN][1000 genomes] |
| rs35598227 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs36037996 | 0.85[ASN][1000 genomes] |
| rs4264866 | 0.96[ASN][1000 genomes] |
| rs4267771 | 0.96[ASN][1000 genomes] |
| rs4299626 | 0.96[ASN][1000 genomes] |
| rs4397030 | 0.95[ASN][1000 genomes] |
| rs4406052 | 0.92[ASN][1000 genomes] |
| rs4488965 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4623046 | 0.96[ASN][1000 genomes] |
| rs6820099 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | nsv531944 | chr4:44299343-45200700 | Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv1014327 | chr4:44735209-45218149 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv878979 | chr4:44871931-45102488 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv829919 | chr4:45069901-45253808 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:45081200-45082600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
