Variant report
| Variant | rs2248465 |
|---|---|
| Chromosome Location | chr7:107303628-107303629 |
| 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 | chr7:107302999..107305030-chr7:107306145..107307910,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs11535285 | 0.90[CEU][hapmap] |
| rs11771278 | 0.94[ASN][1000 genomes] |
| rs13228252 | 0.88[ASN][1000 genomes] |
| rs2237678 | 0.90[CEU][hapmap] |
| rs2253833 | 0.90[CEU][hapmap] |
| rs2293658 | 0.95[CEU][hapmap] |
| rs2701678 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs2701679 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs2701682 | 0.82[EUR][1000 genomes] |
| rs2701684 | 1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
| rs2701685 | 0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2701687 | 1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap] |
| rs2712195 | 0.90[CEU][hapmap] |
| rs2712227 | 0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs2712228 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
| rs2712229 | 0.96[ASN][1000 genomes] |
| rs2807 | 0.95[CEU][hapmap] |
| rs3779495 | 0.95[CEU][hapmap] |
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 | nsv1033979 | chr7:107003734-107877761 | Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 62 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2248465 | COG5 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:107302800-107303800 | Weak transcription | Spleen | Spleen |
