Variant report
| Variant | rs72927965 |
|---|---|
| Chromosome Location | chr4:130051028-130051029 |
| allele | A/G |
| 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 | chr4:130049467..130051286-chr4:130053032..130055876,2 | K562 | blood: | |
| 2 | chr4:130049431..130052409-chr4:130054376..130057821,3 | K562 | blood: | |
| 3 | chr4:130036050..130038012-chr4:130049891..130052657,2 | K562 | blood: | |
| 4 | chr4:130013482..130015163-chr4:130049568..130051318,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000151466 | Chromatin interaction |
| ENSG00000251345 | Chromatin interaction |
| ENSG00000151470 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs11936845 | 0.85[AMR][1000 genomes] |
| rs11940367 | 0.85[AMR][1000 genomes] |
| rs11945943 | 0.85[AMR][1000 genomes] |
| rs57662562 | 1.00[ASN][1000 genomes] |
| rs58916962 | 0.91[AFR][1000 genomes] |
| rs59248688 | 1.00[ASN][1000 genomes] |
| rs61168864 | 0.91[AFR][1000 genomes] |
| rs61437902 | 1.00[ASN][1000 genomes] |
| rs61590033 | 1.00[ASN][1000 genomes] |
| rs72922052 | 1.00[AMR][1000 genomes] |
| rs72922062 | 1.00[AMR][1000 genomes] |
| rs72922083 | 0.85[AMR][1000 genomes] |
| rs72924109 | 0.85[AMR][1000 genomes] |
| rs72924111 | 0.85[AMR][1000 genomes] |
| rs72927916 | 0.85[AMR][1000 genomes] |
| rs72927939 | 0.91[AFR][1000 genomes] |
| rs72927949 | 0.91[AFR][1000 genomes] |
| rs72927952 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72927956 | 0.88[ASN][1000 genomes] |
| rs72927957 | 0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72927966 | 1.00[ASN][1000 genomes] |
| rs72927970 | 0.91[AFR][1000 genomes] |
| rs72927974 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72927976 | 0.91[AFR][1000 genomes] |
| rs72927980 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72927998 | 0.91[AFR][1000 genomes] |
| rs72927999 | 0.91[AFR][1000 genomes] |
| rs72928000 | 0.91[AFR][1000 genomes] |
| rs72928002 | 0.81[AFR][1000 genomes] |
| rs73848919 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869258 | chr4:129191619-130138148 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 79 gene(s) | inside rSNPs | diseases |
| 2 | nsv534538 | chr4:129799138-130431688 | Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 3 | nsv879931 | chr4:129939775-130178102 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:130032400-130052200 | Weak transcription | Aorta | Aorta |
