Variant report
| Variant | rs41858 |
|---|---|
| Chromosome Location | chr7:69007901-69007902 |
| allele | C/T |
| 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 | chr7:69007455..69010240-chr7:69045492..69047851,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10950191 | 0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12333508 | 0.83[ASN][1000 genomes] |
| rs12531914 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12669765 | 0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1468588 | 0.83[ASN][1000 genomes] |
| rs2253711 | 0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2533440 | 0.83[ASN][1000 genomes] |
| rs2533446 | 0.83[ASN][1000 genomes] |
| rs2533447 | 0.83[ASN][1000 genomes] |
| rs2533456 | 0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs2851485 | 0.83[ASN][1000 genomes] |
| rs2851500 | 0.83[ASN][1000 genomes] |
| rs2851504 | 0.81[ASN][1000 genomes] |
| rs2851509 | 0.83[ASN][1000 genomes] |
| rs2851512 | 0.83[ASN][1000 genomes] |
| rs41851 | 0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs41855 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs585282 | 0.81[JPT][hapmap] |
| rs595681 | 0.81[JPT][hapmap] |
| rs610930 | 0.81[JPT][hapmap] |
| rs720056 | 0.83[ASN][1000 genomes] |
| rs9692258 | 0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs981291 | 0.83[ASN][1000 genomes] |
| rs988282 | 0.83[ASN][1000 genomes] |
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 | nsv1023885 | chr7:68894896-69158290 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv538915 | chr7:68894896-69158290 | Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv916011 | chr7:68942155-69330800 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs41858 | AUTS2 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:69000000-69014600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
