Variant report
Variant | rs12053895 |
---|---|
Chromosome Location | chr3:46044619-46044620 |
allele | A/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:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:46038061..46039576-chr3:46044215..46045732,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11130082 | 0.81[EUR][1000 genomes] |
rs12054373 | 0.81[AFR][1000 genomes];0.80[EUR][1000 genomes] |
rs12485445 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13064616 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs13084541 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs13086858 | 0.81[EUR][1000 genomes] |
rs1392288 | 0.88[ASN][1000 genomes] |
rs1500003 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1846615 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1873000 | 0.81[EUR][1000 genomes] |
rs1873001 | 0.81[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2129879 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2129881 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2133660 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2171528 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2171529 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2276855 | 0.92[ASN][1000 genomes] |
rs2373089 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2373090 | 0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35283688 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3796374 | 0.88[ASN][1000 genomes] |
rs3947589 | 0.88[ASN][1000 genomes] |
rs4683159 | 0.81[EUR][1000 genomes] |
rs4683165 | 0.88[ASN][1000 genomes] |
rs4683170 | 0.83[EUR][1000 genomes] |
rs55844314 | 0.88[ASN][1000 genomes] |
rs57542549 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs57651127 | 0.92[ASN][1000 genomes] |
rs57837898 | 0.92[ASN][1000 genomes] |
rs751667 | 0.92[ASN][1000 genomes] |
rs7612402 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7628447 | 0.81[EUR][1000 genomes] |
rs9844821 | 0.88[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv876734 | chr3:45725031-46468467 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
2 | nsv498008 | chr3:45733423-46319401 | Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
3 | esv2756987 | chr3:46016464-46120400 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
4 | esv2759145 | chr3:46016464-46120400 | Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
5 | esv1805205 | chr3:46032847-46111081 | Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:46037600-46053000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr3:46037600-46064600 | Weak transcription | Gastric | stomach |
3 | chr3:46038200-46047400 | Weak transcription | Psoas Muscle | Psoas |
4 | chr3:46043200-46047600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |