Variant report
| Variant | rs13137327 |
|---|---|
| Chromosome Location | chr4:120596568-120596569 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:120596527..120599476-chr4:120602386..120604246,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:41)
| rs_ID | r2[population] |
|---|---|
| rs10007021 | 0.84[ASN][1000 genomes] |
| rs10012609 | 1.00[ASN][1000 genomes] |
| rs10013319 | 0.84[ASN][1000 genomes] |
| rs10015250 | 0.84[ASN][1000 genomes] |
| rs10024373 | 1.00[ASN][1000 genomes] |
| rs10034636 | 1.00[ASN][1000 genomes] |
| rs11947667 | 1.00[ASN][1000 genomes] |
| rs12642764 | 1.00[ASN][1000 genomes] |
| rs12643785 | 0.97[ASN][1000 genomes] |
| rs12646486 | 0.84[ASN][1000 genomes] |
| rs12648324 | 0.84[ASN][1000 genomes] |
| rs12648560 | 0.91[ASN][1000 genomes] |
| rs12711079 | 1.00[ASN][1000 genomes] |
| rs13108160 | 0.84[ASN][1000 genomes] |
| rs13121100 | 1.00[ASN][1000 genomes] |
| rs13132106 | 0.84[ASN][1000 genomes] |
| rs17051363 | 0.81[ASN][1000 genomes] |
| rs2252946 | 1.00[ASN][1000 genomes] |
| rs2253534 | 1.00[ASN][1000 genomes] |
| rs2389893 | 0.84[ASN][1000 genomes] |
| rs2389894 | 1.00[ASN][1000 genomes] |
| rs2389895 | 0.91[ASN][1000 genomes] |
| rs2389896 | 1.00[ASN][1000 genomes] |
| rs2389897 | 1.00[ASN][1000 genomes] |
| rs2583613 | 1.00[ASN][1000 genomes] |
| rs2583614 | 0.94[ASN][1000 genomes] |
| rs2715017 | 0.94[ASN][1000 genomes] |
| rs2715024 | 1.00[ASN][1000 genomes] |
| rs2715025 | 1.00[ASN][1000 genomes] |
| rs2892872 | 1.00[ASN][1000 genomes] |
| rs4146267 | 0.84[ASN][1000 genomes] |
| rs4834796 | 0.84[ASN][1000 genomes] |
| rs4834801 | 0.84[ASN][1000 genomes] |
| rs6820878 | 1.00[ASN][1000 genomes] |
| rs6821083 | 1.00[ASN][1000 genomes] |
| rs6831551 | 0.92[AFR][1000 genomes] |
| rs6843112 | 1.00[ASN][1000 genomes] |
| rs6843408 | 1.00[ASN][1000 genomes] |
| rs6844603 | 0.91[ASN][1000 genomes] |
| rs6844952 | 1.00[ASN][1000 genomes] |
| rs7441168 | 0.84[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv916641 | chr4:119780023-120777320 | Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 72 gene(s) | inside rSNPs | diseases |
| 2 | nsv532739 | chr4:120392824-121098103 | Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| 3 | nsv1010753 | chr4:120429028-120684310 | Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv537233 | chr4:120429028-120684310 | ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 5 | nsv1006572 | chr4:120432494-120694243 | Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 6 | esv1802546 | chr4:120558608-120675026 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 7 | nsv1010638 | chr4:120586178-120671835 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 8 | nsv1009771 | chr4:120590902-120665812 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:120577600-120605000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr4:120589400-120599800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
| 3 | chr4:120589600-120599800 | Weak transcription | Colon Smooth Muscle | Colon |
| 4 | chr4:120594400-120599800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 5 | chr4:120594600-120599800 | Weak transcription | Rectal Smooth Muscle | rectum |
| 6 | chr4:120594800-120597000 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
