Variant report
| Variant | rs7010246 |
|---|---|
| Chromosome Location | chr8:10836472-10836473 |
| 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:29)
| rs_ID | r2[population] |
|---|---|
| rs11250089 | 1.00[ASN][1000 genomes] |
| rs11786713 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap] |
| rs11997941 | 1.00[CHB][hapmap] |
| rs13275368 | 1.00[CHB][hapmap] |
| rs13280573 | 1.00[CHB][hapmap] |
| rs17152399 | 1.00[CHB][hapmap] |
| rs17152492 | 1.00[CHB][hapmap] |
| rs2409654 | 1.00[CHB][hapmap] |
| rs2409655 | 1.00[CHB][hapmap] |
| rs2409656 | 1.00[CHB][hapmap] |
| rs2409695 | 1.00[CHB][hapmap] |
| rs2898244 | 1.00[CHB][hapmap] |
| rs35545799 | 1.00[ASN][1000 genomes] |
| rs4285446 | 1.00[CEU][hapmap];0.99[EUR][1000 genomes] |
| rs4310166 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs4618656 | 1.00[CHB][hapmap] |
| rs6601537 | 1.00[CHB][hapmap] |
| rs6601538 | 1.00[CHB][hapmap] |
| rs6987083 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs6993463 | 1.00[CHB][hapmap] |
| rs6993632 | 1.00[CHB][hapmap] |
| rs6993753 | 1.00[CHB][hapmap] |
| rs7005389 | 1.00[CHB][hapmap] |
| rs73209953 | 1.00[ASN][1000 genomes] |
| rs73209954 | 1.00[ASN][1000 genomes] |
| rs7822821 | 1.00[CHB][hapmap] |
| rs7840610 | 1.00[CHB][hapmap] |
| rs7840769 | 1.00[CHB][hapmap] |
| rs934325 | 1.00[CHB][hapmap] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv521721 | chr8:10802102-10836472 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 2 | nsv1035072 | chr8:10819444-11480692 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
| 3 | nsv539473 | chr8:10819444-11480692 | Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 50 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7010246 | CTSB | cis | cerebellum | SCAN |
| rs7010246 | MFHAS1 | cis | cerebellum | SCAN |
| rs7010246 | TDH | cis | cerebellum | SCAN |
| rs7010246 | C8orf5 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:10836200-10836600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr8:10836200-10837000 | Bivalent Enhancer | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 3 | chr8:10836400-10836800 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
