Variant report
| Variant | rs7680601 |
|---|---|
| Chromosome Location | chr4:171618684-171618685 |
| 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 | chr4:171616881..171619381-chr4:171620954..171623355,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10012201 | 0.85[EUR][1000 genomes] |
| rs11132858 | 0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11132859 | 0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11931393 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12644221 | 0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs13114948 | 0.86[ASN][1000 genomes] |
| rs13145731 | 0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1403211 | 0.86[ASN][1000 genomes] |
| rs1442909 | 0.86[EUR][1000 genomes] |
| rs1533837 | 0.86[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1568620 | 0.86[ASN][1000 genomes] |
| rs1568621 | 0.84[ASN][1000 genomes] |
| rs17662713 | 0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1915996 | 0.86[ASN][1000 genomes] |
| rs1996831 | 0.86[ASN][1000 genomes] |
| rs2331976 | 0.89[EUR][1000 genomes] |
| rs28702559 | 0.84[ASN][1000 genomes] |
| rs35465717 | 0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4593091 | 0.87[EUR][1000 genomes] |
| rs6828494 | 0.84[EUR][1000 genomes] |
| rs6844817 | 0.89[EUR][1000 genomes] |
| rs7654851 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7681130 | 0.87[EUR][1000 genomes] |
| rs9991006 | 0.86[ASN][1000 genomes] |
| rs9992998 | 0.82[EUR][1000 genomes] |
| rs9995101 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |
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 | nsv596167 | chr4:171576294-171672038 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7680601 | PMS1 | trans | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:171617800-171619000 | Enhancers | Fetal Intestine Small | intestine |
| 2 | chr4:171618600-171619000 | Flanking Active TSS | GM12878-XiMat | blood |
