Variant report
| Variant | rs9646682 |
|---|---|
| Chromosome Location | chr2:145712376-145712377 |
| allele | C/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 | chr2:145638931..145641686-chr2:145711451..145713690,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000268580 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10928231 | 0.88[EUR][1000 genomes] |
| rs10928232 | 0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes] |
| rs10928235 | 0.81[ASN][1000 genomes] |
| rs11674165 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs11680871 | 0.80[AMR][1000 genomes] |
| rs11682379 | 0.80[AMR][1000 genomes];0.82[ASN][1000 genomes] |
| rs11684042 | 0.80[AMR][1000 genomes] |
| rs11689317 | 0.83[ASN][1000 genomes] |
| rs12151653 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1438896 | 0.95[CEU][hapmap];0.80[CHB][hapmap];0.89[EUR][1000 genomes] |
| rs1438898 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17407658 | 0.93[ASN][1000 genomes] |
| rs4662402 | 0.95[CEU][hapmap];0.80[CHB][hapmap];0.89[EUR][1000 genomes] |
| rs56795645 | 0.85[ASN][1000 genomes] |
| rs6738560 | 0.89[EUR][1000 genomes] |
| rs72854415 | 0.85[ASN][1000 genomes] |
| rs72854416 | 0.85[ASN][1000 genomes] |
| rs72854449 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72854462 | 0.82[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs72854464 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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 | nsv1002563 | chr2:145182201-145863253 | Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv535957 | chr2:145182201-145863253 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 3 | nsv932113 | chr2:145515124-145844491 | Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv834398 | chr2:145659419-145830156 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:145709200-145712600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr2:145710000-145722600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
