Variant report
| Variant | rs2830603 |
|---|---|
| Chromosome Location | chr21:28364254-28364255 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10482979 | 1.00[CHD][hapmap] |
| rs11700721 | 1.00[CHD][hapmap] |
| rs13046440 | 1.00[ASN][1000 genomes] |
| rs13048512 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1995097 | 0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs229053 | 1.00[CHD][hapmap] |
| rs2830552 | 1.00[ASN][1000 genomes] |
| rs2830591 | 1.00[CHD][hapmap] |
| rs2830593 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2830616 | 0.88[AMR][1000 genomes] |
| rs34176988 | 1.00[ASN][1000 genomes] |
| rs34663667 | 1.00[ASN][1000 genomes] |
| rs34855936 | 0.83[ASN][1000 genomes] |
| rs34956452 | 0.88[AMR][1000 genomes] |
| rs35188003 | 0.88[AMR][1000 genomes] |
| rs35424917 | 1.00[ASN][1000 genomes] |
| rs55933916 | 1.00[ASN][1000 genomes] |
| rs56356255 | 0.93[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs62216011 | 0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6516749 | 0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7281442 | 0.93[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs8130155 | 1.00[ASN][1000 genomes] |
| rs9977754 | 0.83[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1066573 | chr21:28096356-28374354 | Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv1067475 | chr21:28238746-29046707 | Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 15 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2830603 | NCRNA00189 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:28351800-28416600 | Weak transcription | Ovary | ovary |
| 2 | chr21:28364200-28367000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
