Variant report
| Variant | rs1947144 |
|---|---|
| Chromosome Location | chr2:30311088-30311089 |
| allele | A/G |
| 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 | chr2:30305746..30308667-chr2:30310029..30312692,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10179096 | 0.90[EUR][1000 genomes] |
| rs12052275 | 0.84[ASN][1000 genomes] |
| rs1345151 | 0.95[JPT][hapmap] |
| rs1374724 | 0.80[ASN][1000 genomes] |
| rs1509579 | 0.81[ASN][1000 genomes] |
| rs17009154 | 0.81[CHB][hapmap];0.95[JPT][hapmap] |
| rs2361751 | 0.84[ASN][1000 genomes] |
| rs3768669 | 0.81[CHB][hapmap];0.95[JPT][hapmap] |
| rs3768671 | 0.90[JPT][hapmap] |
| rs3886897 | 0.91[ASN][1000 genomes] |
| rs4245768 | 0.85[EUR][1000 genomes] |
| rs4332963 | 0.91[ASN][1000 genomes] |
| rs4603808 | 0.91[ASN][1000 genomes] |
| rs4951982 | 0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs4952094 | 0.84[ASN][1000 genomes] |
| rs6547994 | 0.95[JPT][hapmap] |
| rs6547997 | 0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes] |
| rs6710956 | 0.90[JPT][hapmap] |
| rs6739748 | 0.82[ASN][1000 genomes] |
| rs7585724 | 0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs7588777 | 0.85[EUR][1000 genomes] |
| rs7596566 | 0.91[ASN][1000 genomes] |
| rs7603389 | 0.83[ASN][1000 genomes] |
| rs7608690 | 0.84[ASN][1000 genomes] |
| rs9309677 | 0.81[EUR][1000 genomes] |
| rs935486 | 0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv533886 | chr2:30130019-31068764 | ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1947144 | C2orf16 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:30310800-30311200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
