Variant report
| Variant | rs1368303 |
|---|---|
| Chromosome Location | chr5:147672389-147672390 |
| 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:7)
| rs_ID | r2[population] |
|---|---|
| rs10476890 | 0.82[CHB][hapmap] |
| rs12332430 | 0.83[CHB][hapmap] |
| rs17108151 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs6862717 | 1.00[CEU][hapmap] |
| rs6895242 | 1.00[CEU][hapmap] |
| rs7709159 | 1.00[EUR][1000 genomes] |
| rs7724380 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv883015 | chr5:147404281-147751035 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv883016 | chr5:147640718-147689700 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv883017 | chr5:147640718-147689700 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv883018 | chr5:147640718-147691470 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 5 | nsv462479 | chr5:147648510-147688035 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 6 | nsv599943 | chr5:147648510-147688035 | Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 7 | nsv462480 | chr5:147648510-147689700 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 8 | nsv599944 | chr5:147648510-147689700 | Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 9 | nsv883019 | chr5:147648750-147689700 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 10 | nsv883020 | chr5:147649181-147688035 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 11 | nsv599945 | chr5:147649181-147720487 | Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:68)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1368303 | EPS8L2 | trans | brain | seeQTL |
| rs1368303 | LCAT | trans | brain | seeQTL |
| rs1368303 | USP3 | trans | brain | seeQTL |
| rs1368303 | PDIA2 | trans | brain | seeQTL |
| rs1368303 | SFI1 | trans | brain | seeQTL |
| rs1368303 | FAM131C | trans | brain | seeQTL |
| rs1368303 | GALNT13 | trans | brain | seeQTL |
| rs1368303 | KDM4B | trans | brain | seeQTL |
| rs1368303 | HCN3 | trans | brain | seeQTL |
| rs1368303 | AMICA1 | trans | brain | seeQTL |
| rs1368303 | IL11 | trans | brain | seeQTL |
| rs1368303 | DAO | trans | brain | seeQTL |
| rs1368303 | TNFRSF25 | trans | brain | seeQTL |
| rs1368303 | MTNR1A | trans | brain | seeQTL |
| rs1368303 | CLDN3 | trans | brain | seeQTL |
| rs1368303 | DUSP4 | trans | brain | seeQTL |
| rs1368303 | DGKD | trans | brain | seeQTL |
| rs1368303 | WFIKKN1 | trans | brain | seeQTL |
| rs1368303 | IL28RA | trans | brain | seeQTL |
| rs1368303 | FCER2 | trans | brain | seeQTL |
| rs1368303 | ESPNL | trans | brain | seeQTL |
| rs1368303 | CACNA1A | trans | brain | seeQTL |
| rs1368303 | LAT | trans | brain | seeQTL |
| rs1368303 | EBF1 | trans | brain | seeQTL |
| rs1368303 | MDGA1 | trans | brain | seeQTL |
| rs1368303 | LCN8 | trans | brain | seeQTL |
| rs1368303 | TSPAN9 | trans | brain | seeQTL |
| rs1368303 | CLK4 | trans | brain | seeQTL |
| rs1368303 | TMEM52 | trans | brain | seeQTL |
| rs1368303 | GRM4 | trans | brain | seeQTL |
| rs1368303 | RASSF7 | trans | brain | seeQTL |
| rs1368303 | SYTL1 | trans | brain | seeQTL |
| rs1368303 | BARHL1 | trans | brain | seeQTL |
| rs1368303 | SEPT12 | trans | brain | seeQTL |
| rs1368303 | C5orf38 | trans | brain | seeQTL |
| rs1368303 | CCDC155 | trans | brain | seeQTL |
| rs1368303 | TNXB | trans | brain | seeQTL |
| rs1368303 | LIMA1 | trans | brain | seeQTL |
| rs1368303 | DEGS2 | trans | brain | seeQTL |
| rs1368303 | RNF165 | trans | brain | seeQTL |
| rs1368303 | STK10 | trans | brain | seeQTL |
| rs1368303 | COL6A1 | trans | brain | seeQTL |
| rs1368303 | CHAD | trans | brain | seeQTL |
| rs1368303 | WNT1 | trans | brain | seeQTL |
| rs1368303 | TMEM145 | trans | brain | seeQTL |
| rs1368303 | FAM46A | trans | brain | seeQTL |
| rs1368303 | DPF3 | trans | brain | seeQTL |
| rs1368303 | TIMP4 | trans | brain | seeQTL |
| rs1368303 | ADAMTS5 | trans | brain | seeQTL |
| rs1368303 | CLCNKA | trans | brain | seeQTL |
| rs1368303 | ZNF33B | trans | brain | seeQTL |
| rs1368303 | LIME1 | trans | brain | seeQTL |
| rs1368303 | MC1R | trans | brain | seeQTL |
| rs1368303 | DAB2IP | trans | brain | seeQTL |
| rs1368303 | MAGIX | trans | brain | seeQTL |
| rs1368303 | ATP2A3 | trans | brain | seeQTL |
| rs1368303 | TGM1 | trans | brain | seeQTL |
| rs1368303 | DDX11 | trans | brain | seeQTL |
| rs1368303 | PCP2 | trans | brain | seeQTL |
| rs1368303 | RELN | trans | brain | seeQTL |
| rs1368303 | EOMES | trans | brain | seeQTL |
| rs1368303 | SLC9A5 | trans | brain | seeQTL |
| rs1368303 | IGSF9B | trans | brain | seeQTL |
| rs1368303 | TRIM3 | trans | brain | seeQTL |
| rs1368303 | SEMA3G | trans | brain | seeQTL |
| rs1368303 | ADAMTS18 | trans | brain | seeQTL |
| rs1368303 | LY6G5C | trans | brain | seeQTL |
| rs1368303 | LRRC26 | trans | brain | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:147671200-147672400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
| 2 | chr5:147671200-147672600 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 3 | chr5:147671200-147688400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr5:147671800-147693800 | Weak transcription | Left Ventricle | heart |
