Variant report
| Variant | rs10243409 |
|---|---|
| Chromosome Location | chr7:139984240-139984241 |
| 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 | chr7:139983287..139985167-chr7:140004183..140006498,2 | K562 | blood: | |
| 2 | chr7:139875096..139877350-chr7:139981549..139984952,3 | K562 | blood: | |
| 3 | chr7:139980842..139982492-chr7:139983850..139985688,2 | K562 | blood: | |
| 4 | chr7:139875096..139876841-chr7:139982229..139984952,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000260231 | Chromatin interaction |
| ENSG00000270512 | Chromatin interaction |
| ENSG00000006459 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10239649 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10243392 | 0.89[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10256074 | 1.00[MEX][hapmap] |
| rs10265395 | 1.00[MEX][hapmap] |
| rs10269029 | 1.00[MEX][hapmap];1.00[AMR][1000 genomes] |
| rs10272578 | 1.00[AMR][1000 genomes] |
| rs10276766 | 1.00[AMR][1000 genomes] |
| rs13437674 | 1.00[AMR][1000 genomes] |
| rs2471297 | 1.00[MEX][hapmap] |
| rs28571647 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs56694112 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57950210 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61228850 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs6971110 | 1.00[AMR][1000 genomes] |
| rs73472718 | 1.00[AMR][1000 genomes] |
| rs73479826 | 1.00[AMR][1000 genomes] |
| rs7811509 | 1.00[MEX][hapmap] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv889247 | chr7:139855216-140033631 | Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv1015840 | chr7:139912355-139987681 | Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv1026255 | chr7:139944473-140043299 | Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv519667 | chr7:139969051-139992387 | Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:139975600-140002600 | Weak transcription | Right Atrium | heart |
| 2 | chr7:139977400-139995400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
