Variant report
| Variant | rs73449091 |
|---|---|
| Chromosome Location | chr7:126360043-126360044 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:126359674..126361280-chr7:126368196..126369937,2 | K562 | blood: | |
| 2 | 7:126085913-126088095..7:126358358-126363704 | GM12878 | blood: | |
| 3 | chr7:126359092..126361580-chr7:126364293..126366745,2 | K562 | blood: | |
| 4 | 7:126358358-126363704..7:127009457-127018926 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000048405 | Chromatin interaction |
| ENSG00000179603 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs2237770 | 1.00[AMR][1000 genomes] |
| rs2283077 | 1.00[AMR][1000 genomes] |
| rs2283078 | 1.00[AMR][1000 genomes] |
| rs2283081 | 1.00[AMR][1000 genomes] |
| rs58768465 | 1.00[AMR][1000 genomes] |
| rs59966379 | 1.00[AMR][1000 genomes] |
| rs60356312 | 1.00[AMR][1000 genomes] |
| rs60739229 | 1.00[AMR][1000 genomes] |
| rs61141784 | 1.00[AMR][1000 genomes] |
| rs61758766 | 1.00[AMR][1000 genomes] |
| rs61758827 | 1.00[AMR][1000 genomes] |
| rs6944201 | 1.00[AMR][1000 genomes] |
| rs73449023 | 1.00[AMR][1000 genomes] |
| rs73449077 | 1.00[AMR][1000 genomes] |
| rs73449083 | 1.00[AMR][1000 genomes] |
| rs73449094 | 1.00[AMR][1000 genomes] |
| rs73449097 | 1.00[AMR][1000 genomes] |
| rs73449223 | 1.00[AMR][1000 genomes] |
| rs73449233 | 1.00[AMR][1000 genomes] |
| rs73449235 | 1.00[AMR][1000 genomes] |
| rs73449236 | 1.00[AMR][1000 genomes] |
| rs73449239 | 1.00[AMR][1000 genomes] |
| rs73449240 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529300 | chr7:125669493-126587858 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv1032938 | chr7:126067684-126587859 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv539119 | chr7:126067684-126587859 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv889187 | chr7:126219766-126478190 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv1032108 | chr7:126278349-126362592 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:126342000-126367800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr7:126358600-126361200 | Enhancers | GM12878-XiMat | blood |
| 3 | chr7:126360000-126360400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
