Variant report
| Variant | rs850345 |
|---|---|
| Chromosome Location | chr7:145092324-145092325 |
| allele | A/C |
| 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 | chr7:145092217..145095000-chr7:145095944..145098182,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11772811 | 0.86[EUR][1000 genomes] |
| rs12333447 | 0.84[AFR][1000 genomes];0.81[ASN][1000 genomes] |
| rs12672887 | 0.97[ASN][1000 genomes] |
| rs13225537 | 0.90[EUR][1000 genomes] |
| rs13243922 | 0.85[EUR][1000 genomes] |
| rs2888193 | 0.81[ASN][1000 genomes] |
| rs6944832 | 0.81[ASN][1000 genomes] |
| rs6976454 | 0.92[EUR][1000 genomes] |
| rs7790132 | 0.81[ASN][1000 genomes] |
| rs850344 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs850346 | 0.93[ASN][1000 genomes] |
| rs850347 | 0.93[ASN][1000 genomes] |
| rs850348 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs850349 | 0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1031071 | chr7:144318082-145125392 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv539169 | chr7:144318082-145125392 | Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs850345 | CUL1 | cis | parietal | SCAN |
| rs850345 | TRPV5 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:145090400-145093000 | Enhancers | Fetal Lung | lung |
