Variant report
| Variant | rs2192363 |
|---|---|
| Chromosome Location | chr4:15465978-15465979 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:15465649..15467858-chr4:15470539..15474095,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000048342 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs10002931 | 0.85[ASN][1000 genomes] |
| rs10003338 | 0.85[ASN][1000 genomes] |
| rs10032941 | 0.85[ASN][1000 genomes] |
| rs10212844 | 0.84[ASN][1000 genomes] |
| rs10212901 | 0.85[ASN][1000 genomes] |
| rs10213628 | 0.85[ASN][1000 genomes] |
| rs1048037 | 0.91[ASN][1000 genomes] |
| rs11934015 | 0.85[ASN][1000 genomes] |
| rs11937671 | 0.85[ASN][1000 genomes] |
| rs13106702 | 0.85[ASN][1000 genomes] |
| rs13124324 | 0.85[ASN][1000 genomes] |
| rs13138554 | 0.84[EUR][1000 genomes] |
| rs2160046 | 0.94[ASN][1000 genomes] |
| rs2192364 | 0.85[ASN][1000 genomes] |
| rs2215810 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs28376639 | 0.85[ASN][1000 genomes] |
| rs2872704 | 0.85[ASN][1000 genomes] |
| rs34496443 | 0.85[EUR][1000 genomes] |
| rs35301498 | 0.85[EUR][1000 genomes] |
| rs35465107 | 0.85[EUR][1000 genomes] |
| rs3822296 | 0.85[ASN][1000 genomes] |
| rs4140932 | 0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs58479200 | 0.85[EUR][1000 genomes] |
| rs6449138 | 0.85[ASN][1000 genomes] |
| rs6828721 | 0.85[ASN][1000 genomes] |
| rs6855244 | 0.84[ASN][1000 genomes] |
| rs722235 | 0.85[EUR][1000 genomes] |
| rs7661287 | 0.94[ASN][1000 genomes] |
| rs7681816 | 0.83[ASN][1000 genomes] |
| rs7687272 | 0.85[ASN][1000 genomes] |
| rs7690471 | 0.85[ASN][1000 genomes] |
| rs7697778 | 0.85[ASN][1000 genomes] |
| rs973629 | 0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9991652 | 0.85[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 | esv3448986 | chr4:14928802-15805558 | Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 52 gene(s) | inside rSNPs | diseases |
| 2 | esv2757923 | chr4:15444617-15749520 | Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| 3 | esv2759227 | chr4:15444617-15749520 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | 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 | chr4:15438800-15471200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr4:15459600-15470600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr4:15462000-15471000 | Weak transcription | Aorta | Aorta |
