Variant report
Variant | rs73116963 |
---|---|
Chromosome Location | chr2:235027546-235027547 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:235027265..235030040-chr2:235033173..235035604,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-HJURP-7 | chr2:235026282-235028092 | ucscGeneNc_uc002vvl_1 |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11888360 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11899774 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs57379071 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs6733083 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs6757603 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs73113215 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs73113218 | 1.00[AMR][1000 genomes] |
rs73116968 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs73116976 | 1.00[EUR][1000 genomes] |
rs73116983 | 1.00[EUR][1000 genomes] |
rs7600303 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1013712 | chr2:234558457-235495825 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
2 | nsv532476 | chr2:234595695-235134381 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 37 gene(s) | inside rSNPs | diseases |
3 | nsv834571 | chr2:234929288-235110332 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
4 | nsv998149 | chr2:234978261-235086951 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:235025000-235040000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |