Variant report
| Variant | rs773609 |
|---|---|
| Chromosome Location | chr1:113810964-113810965 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:113734249..113736270-chr1:113809547..113812502,2 | K562 | blood: | |
| 2 | chr1:113786311..113788784-chr1:113808904..113811140,2 | K562 | blood: | |
| 3 | chr1:113806133..113808467-chr1:113810520..113812475,2 | K562 | blood: | |
| 4 | chr1:113810016..113812073-chr1:113817406..113820009,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs1088716 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1418605 | 0.94[ASN][1000 genomes] |
| rs2763874 | 1.00[ASN][1000 genomes] |
| rs6656612 | 1.00[CHB][hapmap] |
| rs6696679 | 1.00[CHB][hapmap];1.00[CHD][hapmap] |
| rs773572 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs773573 | 0.89[ASN][1000 genomes] |
| rs773574 | 0.94[ASN][1000 genomes] |
| rs773598 | 0.88[ASN][1000 genomes] |
| rs773599 | 0.88[ASN][1000 genomes] |
| rs773600 | 0.88[ASN][1000 genomes] |
| rs773602 | 0.88[ASN][1000 genomes] |
| rs773604 | 0.88[ASN][1000 genomes] |
| rs773605 | 0.88[ASN][1000 genomes] |
| rs773607 | 0.94[ASN][1000 genomes] |
| rs773608 | 0.94[ASN][1000 genomes] |
| rs773610 | 1.00[ASN][1000 genomes] |
| rs773614 | 1.00[CHB][hapmap];0.94[ASN][1000 genomes] |
| rs796471 | 1.00[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 | esv18293 | chr1:113375437-113852815 | Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 65 gene(s) | inside rSNPs | diseases |
| 2 | nsv1007045 | chr1:113425222-113839910 | Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 59 gene(s) | inside rSNPs | diseases |
| 3 | nsv427719 | chr1:113570229-114078388 | Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:8)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs773609 | HBXIP | cis | parietal | SCAN |
| rs773609 | GPR61 | cis | parietal | SCAN |
| rs773609 | DENND2C | cis | parietal | SCAN |
| rs773609 | WNT2B | cis | parietal | SCAN |
| rs773609 | ETV6 | trans | parietal | SCAN |
| rs773609 | CHI3L2 | cis | parietal | SCAN |
| rs773609 | FAM40A | cis | cerebellum | SCAN |
| rs773609 | NRAS | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:113798800-113817800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr1:113799400-113824200 | Weak transcription | Fetal Kidney | kidney |
