Variant report
| Variant | rs511332 |
|---|---|
| Chromosome Location | chr1:179911623-179911624 |
| allele | C/G |
| 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 | chr1:179904160..179906829-chr1:179911377..179913014,2 | K562 | blood: | |
| 2 | chr1:179906513..179911873-chr1:179922155..179925771,5 | K562 | blood: | |
| 3 | chr1:179909218..179916721-chr1:179922197..179926382,9 | K562 | blood: | |
| 4 | chr1:179909514..179912296-chr1:179922909..179924946,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000260360 | Chromatin interaction |
| ENSG00000135837 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10913918 | 0.85[ASN][1000 genomes] |
| rs1281384 | 0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1281386 | 0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1281389 | 0.95[ASN][1000 genomes] |
| rs2281805 | 0.95[ASN][1000 genomes] |
| rs2477114 | 0.83[ASN][1000 genomes] |
| rs2777910 | 0.87[ASN][1000 genomes] |
| rs2985373 | 0.95[ASN][1000 genomes] |
| rs504202 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs521858 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs526683 | 0.95[ASN][1000 genomes] |
| rs533795 | 0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs539324 | 0.85[ASN][1000 genomes] |
| rs551607 | 0.92[ASN][1000 genomes] |
| rs552743 | 0.90[ASN][1000 genomes] |
| rs552763 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs561233 | 0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs571822 | 0.85[AFR][1000 genomes];0.80[AMR][1000 genomes] |
| rs585355 | 0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv429936 | chr1:179790343-180214343 | Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 72 gene(s) | inside rSNPs | diseases |
| 2 | nsv429947 | chr1:179790518-179925104 | Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 3 | esv1815608 | chr1:179813499-180067988 | Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 4 | nsv429958 | chr1:179814306-179994628 | Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
