Variant report
Variant | rs2200579 |
---|---|
Chromosome Location | chr12:72410745-72410746 |
allele | C/T |
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 | chr12:72410168..72411681-chr12:72415745..72417285,2 | K562 | blood: | |
2 | chr12:72410464..72411458-chr12:72676217..72677150,5 | MCF-7 | breast: | |
3 | chr12:72201197..72203988-chr12:72410203..72412413,2 | K562 | blood: | |
4 | chr12:72410580..72411155-chr12:72661452..72662373,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10879354 | 0.82[CEU][hapmap] |
rs10879355 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10879357 | 1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10879358 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10879359 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11179049 | 0.91[CEU][hapmap];0.92[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11179050 | 0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs11179052 | 0.95[CEU][hapmap];1.00[CHB][hapmap] |
rs11179055 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11179057 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11179058 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11179059 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1386482 | 0.96[CEU][hapmap];1.00[CHB][hapmap] |
rs1386483 | 0.95[CEU][hapmap];1.00[CHB][hapmap] |
rs1386485 | 0.95[CEU][hapmap];1.00[CHB][hapmap] |
rs1386486 | 0.96[CEU][hapmap];1.00[CHB][hapmap] |
rs1386487 | 0.90[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1487279 | 0.91[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1487280 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4290270 | 0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4430554 | 0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4469933 | 0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4474484 | 0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4488237 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4503586 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4573728 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4573729 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv518498 | chr12:72307616-72508779 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
2 | nsv1054578 | chr12:72307616-72509341 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
3 | nsv899256 | chr12:72409548-72499323 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:72410200-72411000 | Enhancers | Monocytes-CD14+_RO01746 | blood |
2 | chr12:72410600-72411200 | Enhancers | Primary monocytes fromperipheralblood | blood |