Variant report
| Variant | rs11678018 |
|---|---|
| Chromosome Location | chr2:172775126-172775127 |
| 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 | chr2:172765258..172766911-chr2:172774816..172776433,2 | K562 | blood: | |
| 2 | chr2:172772649..172775409-chr2:172776945..172778838,2 | K562 | blood: | |
| 3 | chr2:172773483..172775547-chr2:172966200..172967761,2 | K562 | blood: | |
| 4 | chr2:172772537..172775890-chr2:172777616..172781028,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115844 | Chromatin interaction |
| ENSG00000236651 | Chromatin interaction |
| ENSG00000128708 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11675404 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs11691301 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs11695630 | 0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs13024662 | 0.81[ASN][1000 genomes] |
| rs2083854 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs34137430 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs62182397 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs62182402 | 0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs62182435 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs62182443 | 0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs62183760 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs62183768 | 0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs62183773 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs62183777 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv875410 | chr2:172693780-172896587 | Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv875411 | chr2:172693780-172942448 | Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
| 3 | nsv536037 | chr2:172745597-172780616 | Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 11 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
