Variant report
| Variant | rs3116620 |
|---|---|
| Chromosome Location | chr13:51218119-51218120 |
| 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 | chr13:50696839..50701708-chr13:51215562..51219083,4 | MCF-7 | breast: | |
| 2 | chr13:51216555..51218966-chr13:51222987..51226274,3 | K562 | blood: | |
| 3 | chr13:50698527..50700047-chr13:51217397..51220147,2 | MCF-7 | breast: | |
| 4 | chr13:51216821..51219779-chr13:51224555..51226364,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000231607 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs12853944 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1935174 | 0.92[ASN][1000 genomes] |
| rs2794460 | 0.92[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs2796843 | 0.92[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs3095526 | 0.97[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs3116618 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs3116619 | 0.91[ASN][1000 genomes] |
| rs3121210 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs3121211 | 0.97[ASN][1000 genomes] |
| rs3121212 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3123270 | 0.92[ASN][1000 genomes] |
| rs628413 | 0.84[ASN][1000 genomes] |
| rs637310 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs640923 | 0.83[ASN][1000 genomes] |
| rs706597 | 0.84[ASN][1000 genomes] |
| rs797474 | 0.83[ASN][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 | esv2753964 | chr13:50545399-51421199 | Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 1256 gene(s) | inside rSNPs | diseases |
| 2 | esv2753492 | chr13:50550081-51461720 | Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 1256 gene(s) | inside rSNPs | diseases |
| 3 | esv2753864 | chr13:51136699-51375199 | Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:51210800-51223800 | Weak transcription | Fetal Thymus | thymus |
