Variant report
| Variant | rs3757107 |
|---|---|
| Chromosome Location | chr6:74111770-74111771 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
1
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| DDX43 | TF binding region |
| ENSG00000234025 | Chromatin interaction |
| ENSG00000234882 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11961187 | 0.86[MEX][hapmap];0.85[AMR][1000 genomes] |
| rs11964808 | 0.94[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12662148 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12663695 | 0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12665048 | 1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16883692 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2280286 | 0.81[AMR][1000 genomes] |
| rs35097680 | 0.90[AFR][1000 genomes] |
| rs3734512 | 1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3734516 | 0.98[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs723402 | 0.96[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs930806 | 1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs930807 | 0.96[AMR][1000 genomes] |
| rs930808 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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 | esv3410973 | chr6:73716033-74419545 | Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 191 gene(s) | inside rSNPs | diseases |
| 2 | nsv830693 | chr6:74049342-74216080 | Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs3757107 | DDX43 | cis | lymphoblastoid | seeQTL |
| rs3757107 | DDX43 | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:74105400-74117200 | Weak transcription | Placenta | Placenta |
| 2 | chr6:74111000-74111800 | Active TSS | K562 | blood |
