Variant report
| Variant | rs11162065 |
|---|---|
| Chromosome Location | chr1:76474354-76474355 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- 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 | GATA3 | chr1:76473866-76474569 | SK-N-SH | brain: | n/a | chr1:76474532-76474542 |
| 2 | GATA3 | chr1:76473861-76474541 | SK-N-SH | brain: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:76469959..76472531-chr1:76473869..76475395,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000225605 | TF binding region |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10465725 | 1.00[CEU][hapmap] |
| rs11161872 | 1.00[CEU][hapmap] |
| rs11162003 | 0.87[EUR][1000 genomes] |
| rs11162047 | 0.97[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs11162048 | 0.83[EUR][1000 genomes] |
| rs11162053 | 0.87[AFR][1000 genomes] |
| rs12064158 | 0.94[YRI][hapmap];0.87[AFR][1000 genomes] |
| rs12068640 | 0.80[EUR][1000 genomes] |
| rs12080932 | 0.80[EUR][1000 genomes] |
| rs12084381 | 0.87[EUR][1000 genomes] |
| rs12084383 | 0.87[EUR][1000 genomes] |
| rs12086506 | 1.00[CEU][hapmap] |
| rs12087619 | 0.87[EUR][1000 genomes] |
| rs12089337 | 1.00[CEU][hapmap] |
| rs12090389 | 1.00[CEU][hapmap] |
| rs12091251 | 0.83[EUR][1000 genomes] |
| rs1340684 | 0.87[AFR][1000 genomes] |
| rs17097696 | 1.00[CEU][hapmap] |
| rs17097707 | 1.00[CEU][hapmap] |
| rs17097710 | 1.00[CEU][hapmap] |
| rs17097754 | 0.87[EUR][1000 genomes] |
| rs17097857 | 0.93[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs5745496 | 1.00[CEU][hapmap] |
| rs5745516 | 1.00[CEU][hapmap] |
| rs6692903 | 1.00[CEU][hapmap] |
| rs6696414 | 0.87[EUR][1000 genomes] |
| rs9943136 | 0.87[EUR][1000 genomes] |
| rs9970840 | 1.00[CEU][hapmap] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv998499 | chr1:76361784-76598712 | Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:76467000-76476600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 2 | chr1:76473200-76474400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
