Variant report
| Variant | rs1764627 |
|---|---|
| Chromosome Location | chr1:197186201-197186202 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:197185992..197188090-chr1:197191988..197194131,2 | K562 | blood: | |
| 2 | chr1:197170132..197172139-chr1:197185783..197189433,4 | K562 | blood: | |
| 3 | chr1:197170057..197173332-chr1:197185473..197188777,4 | K562 | blood: | |
| 4 | chr1:197185876..197187759-chr1:197190891..197193116,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000237861 | Chromatin interaction |
| ENSG00000134376 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs1764626 | 0.86[AFR][1000 genomes] |
| rs1764630 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs473663 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs476505 | 1.00[YRI][hapmap] |
| rs516640 | 1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs613010 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6428392 | 1.00[AMR][1000 genomes] |
| rs6680205 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 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 | nsv528460 | chr1:196542567-197446702 | Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 2 | nsv873071 | chr1:197079671-197187605 | Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 3 | nsv873072 | chr1:197079671-197221248 | Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv873073 | chr1:197107074-197221248 | Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 5 | nsv945556 | chr1:197185741-197190908 | Weak transcription Enhancers | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:197172600-197194200 | Weak transcription | Brain Hippocampus Middle | brain |
