Variant report
| Variant | rs650703 |
|---|---|
| Chromosome Location | chr1:212711101-212711102 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:212710028..212714179-chr1:212780419..212783788,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000162772 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs2456824 | 1.00[AMR][1000 genomes] |
| rs2456826 | 1.00[AMR][1000 genomes] |
| rs2501843 | 1.00[AMR][1000 genomes] |
| rs2840386 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2970541 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs504361 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs525552 | 1.00[AMR][1000 genomes] |
| rs546035 | 1.00[AMR][1000 genomes] |
| rs565014 | 1.00[AMR][1000 genomes] |
| rs579218 | 0.95[AFR][1000 genomes] |
| rs580570 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs581751 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs600959 | 1.00[AMR][1000 genomes] |
| rs609614 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs611119 | 1.00[AMR][1000 genomes] |
| rs613464 | 1.00[AMR][1000 genomes] |
| rs613477 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs615521 | 1.00[AMR][1000 genomes] |
| rs634906 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs644143 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs654256 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs665435 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs681533 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs791852 | 1.00[AMR][1000 genomes] |
| rs9429892 | 1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv549139 | chr1:212332294-212876902 | Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 114 gene(s) | inside rSNPs | diseases |
| 2 | nsv1013110 | chr1:212555764-212948092 | Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 81 gene(s) | inside rSNPs | diseases |
| 3 | nsv535287 | chr1:212555764-212948092 | Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 81 gene(s) | inside rSNPs | diseases |
| 4 | nsv873162 | chr1:212610755-212716033 | Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 5 | esv2757770 | chr1:212648143-212843103 | Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 77 gene(s) | inside rSNPs | diseases |
| 6 | esv2758996 | chr1:212648143-212843103 | Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 77 gene(s) | inside rSNPs | diseases |
| 7 | nsv428588 | chr1:212705588-212862875 | Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 78 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
