Variant report
| Variant | rs7038387 |
|---|---|
| Chromosome Location | chr9:95583472-95583473 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | IRF4 | chr9:95583265-95583644 | GM12878 | blood: | n/a | n/a |
| 2 | BATF | chr9:95583222-95583592 | GM12878 | blood: | n/a | chr9:95583416-95583427 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ANKRD19P | TF binding region |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs10124671 | 0.91[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs1040978 | 0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes] |
| rs10739931 | 0.82[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes] |
| rs10739935 | 0.88[ASN][1000 genomes] |
| rs10761174 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs10821019 | 0.99[ASN][1000 genomes] |
| rs13301210 | 0.99[ASN][1000 genomes] |
| rs2057457 | 0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs4465027 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
| rs6479432 | 0.94[ASN][1000 genomes] |
| rs6479433 | 0.93[ASN][1000 genomes] |
| rs7860417 | 0.97[ASN][1000 genomes] |
| rs965654 | 0.82[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | 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 |
| 2 | nsv972420 | chr9:95566045-95588965 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv893574 | chr9:95580376-95688099 | Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7038387 | CENPP | cis | cerebellum | SCAN |
| rs7038387 | CENPP | cis | parietal | SCAN |
| rs7038387 | FANCC | cis | parietal | SCAN |
| rs7038387 | ZNF484 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:95583000-95583600 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
