Variant report
| Variant | rs984872 |
|---|---|
| Chromosome Location | chr1:175394522-175394523 |
| allele | A/G |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs12735331 | 0.95[EUR][1000 genomes] |
| rs12743126 | 1.00[ASN][1000 genomes] |
| rs12743133 | 0.97[ASN][1000 genomes] |
| rs1557562 | 0.97[ASN][1000 genomes] |
| rs16848423 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28613886 | 0.96[EUR][1000 genomes] |
| rs34370670 | 0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs34605676 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs34725056 | 1.00[ASN][1000 genomes] |
| rs35140512 | 0.92[EUR][1000 genomes] |
| rs35294987 | 0.95[ASN][1000 genomes] |
| rs35357711 | 1.00[ASN][1000 genomes] |
| rs35502462 | 1.00[ASN][1000 genomes] |
| rs35764701 | 0.97[ASN][1000 genomes] |
| rs36037377 | 0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs36139619 | 0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs57442025 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57443533 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs66584940 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6683279 | 1.00[ASN][1000 genomes] |
| rs71645249 | 1.00[ASN][1000 genomes] |
| rs73042498 | 1.00[ASN][1000 genomes] |
| rs73042500 | 1.00[ASN][1000 genomes] |
| rs74130303 | 0.92[EUR][1000 genomes] |
| rs873525 | 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 | nsv831948 | chr1:175229631-175407303 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | esv2764232 | chr1:175387997-175504394 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs984872 | MFNG | trans | cerebellum | SCAN |
| rs984872 | PIGC | cis | cerebellum | SCAN |
| rs984872 | RFWD2 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:175394000-175395200 | Weak transcription | Fetal Intestine Large | intestine |
