Variant report
| Variant | rs7704654 |
|---|---|
| Chromosome Location | chr5:111251112-111251113 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:111249217..111251575-chr5:111255774..111258652,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10045343 | 1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs10054939 | 0.95[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs10062983 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs10068091 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs10075532 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs10078382 | 1.00[ASN][1000 genomes] |
| rs11738263 | 1.00[ASN][1000 genomes] |
| rs11745819 | 1.00[ASN][1000 genomes] |
| rs11745837 | 1.00[ASN][1000 genomes] |
| rs11749310 | 0.86[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs11949783 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs1493455 | 1.00[ASN][1000 genomes] |
| rs1494586 | 1.00[ASN][1000 genomes] |
| rs17133879 | 0.82[AMR][1000 genomes] |
| rs28575609 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs57650449 | 1.00[ASN][1000 genomes] |
| rs60643360 | 0.81[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6862840 | 0.81[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6897269 | 1.00[JPT][hapmap] |
| rs73225639 | 1.00[ASN][1000 genomes] |
| rs73225643 | 1.00[ASN][1000 genomes] |
| rs73225644 | 1.00[ASN][1000 genomes] |
| rs73225647 | 1.00[ASN][1000 genomes] |
| rs73227423 | 1.00[ASN][1000 genomes] |
| rs73787724 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs7709342 | 1.00[ASN][1000 genomes] |
| rs7719309 | 0.87[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs967985 | 0.82[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv599367 | chr5:110924280-111602713 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:111249200-111256200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
