Variant report
| Variant | rs73930964 |
|---|---|
| Chromosome Location | chr2:38991254-38991255 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:38974221..38979921-chr2:38986851..38994572,21 | K562 | blood: | |
| 2 | chr2:38973025..38976072-chr2:38989424..38992491,3 | MCF-7 | breast: | |
| 3 | chr2:38991194..38992863-chr2:38993787..38996027,2 | MCF-7 | breast: | |
| 4 | chr2:38976319..38979796-chr2:38988969..38996616,16 | MCF-7 | breast: | |
| 5 | chr2:38973912..38980240-chr2:38989822..38999883,17 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000152147 | Chromatin interaction |
| ENSG00000115875 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs59737185 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61388335 | 1.00[AMR][1000 genomes] |
| rs73930367 | 1.00[AMR][1000 genomes] |
| rs73930825 | 1.00[AMR][1000 genomes] |
| rs73930826 | 1.00[AMR][1000 genomes] |
| rs73930827 | 1.00[AMR][1000 genomes] |
| rs73930831 | 1.00[AMR][1000 genomes] |
| rs73930943 | 1.00[AMR][1000 genomes] |
| rs73930945 | 1.00[AMR][1000 genomes] |
| rs73930952 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73930955 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73930956 | 0.85[AFR][1000 genomes] |
| rs73930960 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73930963 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73930965 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73930966 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes] |
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 | nsv916059 | chr2:38332341-39119398 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 143 gene(s) | inside rSNPs | diseases |
| 2 | nsv9646 | chr2:38358311-39082189 | Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 141 gene(s) | inside rSNPs | diseases |
| 3 | esv1798055 | chr2:38955865-39039504 | Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 111 gene(s) | inside rSNPs | diseases |
| 4 | nsv1014616 | chr2:38985472-39022893 | Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:38979200-39005000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr2:38991200-38994200 | Weak transcription | HepG2 | liver |
