Variant report
| Variant | rs699620 |
|---|---|
| Chromosome Location | chr12:63379794-63379795 |
| allele | C/T |
| 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 | chr12:63376679..63380388-chr12:63381374..63383929,4 | K562 | blood: | |
| 2 | chr12:63370773..63373735-chr12:63378209..63379814,2 | K562 | blood: | |
| 3 | chr12:63325803..63329082-chr12:63375756..63380221,5 | MCF-7 | breast: | |
| 4 | chr12:63379269..63381306-chr12:63383190..63385966,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111110 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10877947 | 1.00[AMR][1000 genomes] |
| rs1250142 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1495030 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61654750 | 1.00[AMR][1000 genomes] |
| rs699598 | 1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73327818 | 1.00[AMR][1000 genomes] |
| rs771982 | 1.00[AMR][1000 genomes] |
| rs771984 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7967943 | 1.00[AMR][1000 genomes] |
| rs968994 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs983981 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
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 | esv3415227 | chr12:63228121-63591615 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
