Variant report
| Variant | rs483916 |
|---|---|
| Chromosome Location | chr8:9793601-9793602 |
| allele | A/C |
| 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:9)
| rs_ID | r2[population] |
|---|---|
| rs11786541 | 0.96[CEU][hapmap];1.00[CHB][hapmap] |
| rs13279701 | 1.00[CHB][hapmap] |
| rs13282752 | 1.00[CHB][hapmap] |
| rs1484641 | 1.00[CHB][hapmap] |
| rs17150816 | 1.00[CHB][hapmap] |
| rs17746227 | 1.00[CHB][hapmap] |
| rs17746245 | 1.00[CHB][hapmap] |
| rs615632 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs6985941 | 1.00[CHB][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 | nsv530864 | chr8:9097498-9914548 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:11)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs483916 | FLJ10661 | cis | cerebellum | SCAN |
| rs483916 | DEFB134 | cis | cerebellum | SCAN |
| rs483916 | MFHAS1 | cis | cerebellum | SCAN |
| rs483916 | PPP1R3B | cis | lymphoblastoid | seeQTL |
| rs483916 | C8orf13 | Cis_chr | lymphoblastoid | RTeQTL |
| rs483916 | CTSB | cis | cerebellum | SCAN |
| rs483916 | PPP1R3B | cis | cerebellum | SCAN |
| rs483916 | AGPAT5 | cis | cerebellum | SCAN |
| rs483916 | BLK | Cis_chr | lymphoblastoid | RTeQTL |
| rs483916 | C8orf5 | Cis_chr | lymphoblastoid | RTeQTL |
| rs483916 | PRSS55 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:9791800-9801800 | Weak transcription | Fetal Brain Male | brain |
