Variant report
| Variant | rs1239148 |
|---|---|
| Chromosome Location | chr6:49790258-49790259 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:49789432..49791713-chr6:49799075..49800704,2 | K562 | blood: | |
| 2 | chr6:49784235..49786295-chr6:49788464..49790853,2 | K562 | blood: | |
| 3 | chr6:49785264..49787289-chr6:49788003..49790525,2 | MCF-7 | breast: | |
| 4 | chr6:49603094..49605918-chr6:49788536..49790418,2 | K562 | blood: | |
| 5 | chr6:49789364..49791456-chr6:49796213..49798004,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000112077 | Chromatin interaction |
| ENSG00000235122 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1088096 | 0.99[ASN][1000 genomes] |
| rs1271196 | 0.99[ASN][1000 genomes] |
| rs1429601 | 0.95[CHB][hapmap];0.95[JPT][hapmap] |
| rs2115677 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs2153576 | 0.98[ASN][1000 genomes] |
| rs360549 | 0.87[CHB][hapmap] |
| rs360550 | 0.85[CHB][hapmap] |
| rs360554 | 0.80[ASN][1000 genomes] |
| rs481185 | 0.84[ASN][1000 genomes] |
| rs508949 | 0.86[CHB][hapmap] |
| rs547972 | 0.86[CHB][hapmap] |
| rs567847 | 0.85[ASN][1000 genomes] |
| rs699958 | 0.87[CHB][hapmap] |
| rs699983 | 0.86[CHB][hapmap] |
| rs780442 | 0.86[CHB][hapmap];0.81[ASN][1000 genomes] |
| rs780444 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs780446 | 0.84[ASN][1000 genomes] |
| rs9463539 | 0.91[ASN][1000 genomes] |
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 | chr6:49790000-49791000 | Weak transcription | Liver | Liver |
