Variant report
| Variant | rs4915252 |
|---|---|
| Chromosome Location | chr1:197869204-197869205 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:197867532..197870079-chr1:197879664..197881900,2 | MCF-7 | breast: | |
| 2 | chr1:197852642..197855916-chr1:197868509..197871754,4 | K562 | blood: | |
| 3 | chr1:197854984..197856657-chr1:197868771..197871042,2 | MCF-7 | breast: | |
| 4 | chr1:197846538..197849323-chr1:197868745..197871219,2 | K562 | blood: | |
| 5 | chr1:197868383..197873929-chr1:197879774..197886951,11 | K562 | blood: | |
| 6 | chr1:197868359..197870237-chr1:197972467..197974974,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000143355 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs1039286 | 0.83[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10733088 | 1.00[AMR][1000 genomes] |
| rs1472498 | 0.83[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs1499594 | 1.00[AMR][1000 genomes] |
| rs1499595 | 1.00[AMR][1000 genomes] |
| rs1580811 | 1.00[AMR][1000 genomes] |
| rs1747819 | 0.83[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs1775455 | 1.00[AMR][1000 genomes] |
| rs2221133 | 1.00[AMR][1000 genomes] |
| rs2477062 | 0.83[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs2488399 | 1.00[AMR][1000 genomes] |
| rs4628536 | 0.84[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs4915247 | 1.00[AMR][1000 genomes] |
| rs4915571 | 1.00[AMR][1000 genomes] |
| rs7518074 | 1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs953508 | 1.00[AMR][1000 genomes] |
| rs957939 | 0.80[AFR][1000 genomes];1.00[AMR][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 | nsv999662 | chr1:197821769-197892803 | Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 2 | esv2762214 | chr1:197821769-197897496 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv1004130 | chr1:197822757-197879728 | Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 13 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:197867200-197870800 | Weak transcription | Rectal Smooth Muscle | rectum |
