Variant report
Variant | rs28448851 |
---|---|
Chromosome Location | chr4:119492751-119492752 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10004322 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10022024 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10031029 | 0.88[EUR][1000 genomes] |
rs11728902 | 0.83[EUR][1000 genomes] |
rs12331454 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs13137401 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs2389780 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs2728403 | 0.85[EUR][1000 genomes] |
rs2787191 | 0.88[EUR][1000 genomes] |
rs67276048 | 0.81[EUR][1000 genomes] |
rs7656990 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs7689541 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv519017 | chr4:118828807-119771481 | Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
2 | nsv1002771 | chr4:119125361-119571237 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
3 | nsv1003731 | chr4:119138262-119506032 | Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
4 | esv3355840 | chr4:119296640-119774737 | Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
5 | nsv830044 | chr4:119338702-119493534 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs28448851 | RP11-384K6.2 | cis | Esophagus Mucosa | GTEx |
rs28448851 | RP11-384K6.2 | cis | lung | GTEx |
rs28448851 | RP11-384K6.6 | cis | Esophagus Muscularis | GTEx |
rs28448851 | RP11-384K6.6 | cis | lung | GTEx |
rs28448851 | RP11-384K6.6 | cis | Skin Sun Exposed Lower leg | GTEx |
rs28448851 | RP11-384K6.2 | cis | Adipose Subcutaneous | GTEx |
rs28448851 | RP11-384K6.2 | cis | Artery Tibial | GTEx |
rs28448851 | RP11-384K6.6 | cis | Artery Tibial | GTEx |
rs28448851 | RP11-384K6.2 | cis | Nerve Tibial | GTEx |
rs28448851 | RP11-384K6.2 | cis | Thyroid | GTEx |
rs28448851 | RP11-384K6.6 | cis | Adipose Subcutaneous | GTEx |
rs28448851 | RP11-384K6.6 | cis | Whole Blood | GTEx |
rs28448851 | RP11-384K6.6 | cis | Nerve Tibial | GTEx |
rs28448851 | RP11-384K6.2 | cis | Skin Sun Exposed Lower leg | GTEx |
rs28448851 | RP11-384K6.6 | cis | Esophagus Mucosa | GTEx |
rs28448851 | RP11-384K6.2 | cis | Whole Blood | GTEx |
rs28448851 | RP11-384K6.6 | cis | Thyroid | GTEx |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:119489400-119494400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |