Variant report
| Variant | rs10992475 |
|---|---|
| Chromosome Location | chr9:95565998-95565999 |
| allele | A/G |
| 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 | chr9:95432561..95435212-chr9:95564441..95567422,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10821017 | 0.88[EUR][1000 genomes] |
| rs10992394 | 0.82[EUR][1000 genomes] |
| rs10992404 | 0.83[EUR][1000 genomes] |
| rs10992406 | 0.92[CEU][hapmap];0.83[EUR][1000 genomes] |
| rs10992408 | 0.84[CEU][hapmap] |
| rs10992426 | 0.84[EUR][1000 genomes] |
| rs10992433 | 0.86[EUR][1000 genomes] |
| rs10992474 | 1.00[ASN][1000 genomes] |
| rs10992476 | 0.90[ASN][1000 genomes] |
| rs1117670 | 0.80[TSI][hapmap] |
| rs12057034 | 0.97[ASN][1000 genomes] |
| rs12236754 | 0.82[CEU][hapmap] |
| rs12236788 | 0.87[EUR][1000 genomes] |
| rs12237216 | 0.83[EUR][1000 genomes] |
| rs1407944 | 0.85[EUR][1000 genomes] |
| rs16908555 | 0.84[CHB][hapmap] |
| rs16908560 | 1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs1853427 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1853429 | 0.96[ASN][1000 genomes] |
| rs2398780 | 1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs4141966 | 1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes] |
| rs6479426 | 0.80[TSI][hapmap] |
| rs72618187 | 0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7850871 | 0.86[EUR][1000 genomes] |
| rs7851947 | 0.86[EUR][1000 genomes] |
| rs7859967 | 0.95[ASN][1000 genomes] |
| rs912261 | 0.85[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes] |
| rs9775970 | 0.81[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv430081 | chr9:95502571-95568110 | Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv831654 | chr9:95542920-95720961 | ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 3 | esv3394460 | chr9:95565031-95568629 | Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | esv3435839 | chr9:95565031-95568729 | Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10992475 | ANKRD19 | cis | cerebellar cortex | BrainEAC |
| rs10992475 | BICD2 | Cis_1M | lymphoblastoid | RTeQTL |
| rs10992475 | CENPP | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:95558600-95569600 | Weak transcription | Right Atrium | heart |
| 2 | chr9:95565800-95566000 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
