Variant report
| Variant | rs696718 |
|---|---|
| Chromosome Location | chr6:49752742-49752743 |
| allele | A/C |
| 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 | chr6:49745444..49747299-chr6:49752324..49754729,2 | MCF-7 | breast: | |
| 2 | chr6:49601959..49606213-chr6:49748509..49752837,6 | K562 | blood: | |
| 3 | chr6:49606839..49609424-chr6:49751166..49753180,2 | K562 | blood: | |
| 4 | chr6:49742645..49745527-chr6:49751545..49753624,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000112077 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs189664 | 0.86[JPT][hapmap] |
| rs360549 | 0.86[JPT][hapmap] |
| rs360550 | 0.86[JPT][hapmap] |
| rs360552 | 0.87[ASN][1000 genomes] |
| rs360554 | 0.91[JPT][hapmap] |
| rs495335 | 0.85[JPT][hapmap] |
| rs509699 | 0.91[JPT][hapmap] |
| rs547848 | 0.87[JPT][hapmap] |
| rs547972 | 0.86[JPT][hapmap] |
| rs669500 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs699955 | 0.86[JPT][hapmap] |
| rs699958 | 0.86[JPT][hapmap] |
| rs699983 | 0.86[JPT][hapmap] |
| rs699986 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs699988 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs699992 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs780442 | 0.86[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv933942 | chr6:49480550-50004231 | Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 25 gene(s) | inside rSNPs | diseases |
| 2 | nsv933833 | chr6:49515134-49961765 | Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:49738600-49754600 | Weak transcription | Fetal Intestine Large | intestine |
