Variant report
| Variant | rs9989667 |
|---|---|
| Chromosome Location | chr19:42209464-42209465 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:49)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:49 , 50 per page) page:
1
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000267881 | TF binding region |
| CEACAM5 | TF binding region |
| ENSG00000007306 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs10153472 | 1.00[EUR][1000 genomes] |
| rs10414811 | 1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs10419314 | 1.00[CEU][hapmap] |
| rs11083638 | 1.00[CEU][hapmap];1.00[EUR][1000 genomes] |
| rs11083640 | 1.00[CEU][hapmap] |
| rs11878734 | 1.00[CEU][hapmap] |
| rs11879437 | 1.00[CEU][hapmap] |
| rs11880977 | 1.00[CEU][hapmap] |
| rs11881220 | 1.00[EUR][1000 genomes] |
| rs11882356 | 1.00[EUR][1000 genomes] |
| rs11883018 | 1.00[CEU][hapmap] |
| rs12104228 | 1.00[CEU][hapmap] |
| rs2288512 | 1.00[CEU][hapmap] |
| rs55753848 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs56173718 | 1.00[EUR][1000 genomes] |
| rs58374389 | 1.00[EUR][1000 genomes] |
| rs717225 | 1.00[CEU][hapmap] |
| rs7253691 | 1.00[CEU][hapmap] |
| rs7257601 | 1.00[CEU][hapmap] |
| rs73932022 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73932024 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73932026 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73932031 | 1.00[EUR][1000 genomes] |
| rs73932034 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73932035 | 1.00[EUR][1000 genomes] |
| rs73932037 | 1.00[EUR][1000 genomes] |
| rs73932045 | 1.00[EUR][1000 genomes] |
| rs73932082 | 1.00[EUR][1000 genomes] |
| rs73932086 | 1.00[EUR][1000 genomes] |
| rs8113686 | 1.00[CEU][hapmap] |
| rs9653098 | 1.00[CEU][hapmap];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3319146 | chr19:42082639-42212929 | Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | esv3319147 | chr19:42082742-42212770 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | esv3422975 | chr19:42106166-42212774 | Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 4 | nsv522854 | chr19:42120283-42931004 | Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 104 gene(s) | inside rSNPs | diseases |
| 5 | nsv1061309 | chr19:42187716-42228445 | Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:42203800-42210800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr19:42204800-42210800 | Weak transcription | Esophagus | oesophagus |
| 3 | chr19:42205200-42210600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 4 | chr19:42206000-42210800 | Weak transcription | Pancreas | Pancrea |
| 5 | chr19:42206600-42210800 | Weak transcription | Placenta | Placenta |
| 6 | chr19:42207400-42210600 | Weak transcription | Hela-S3 | cervix |
| 7 | chr19:42208600-42209800 | Enhancers | A549 | lung |
