Variant report
Variant | rs1498471 |
---|---|
Chromosome Location | chr11:5445307-5445308 |
allele | G/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 | chr11:5438689..5441571-chr11:5444297..5446358,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10838092 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10838093 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10838094 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10838095 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10838096 | 0.81[EUR][1000 genomes] |
rs1391620 | 0.81[EUR][1000 genomes] |
rs1472451 | 0.80[ASN][1000 genomes] |
rs1472453 | 0.83[CEU][hapmap] |
rs1498473 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap] |
rs1909262 | 0.94[CEU][hapmap] |
rs2471993 | 0.86[EUR][1000 genomes] |
rs2647547 | 0.94[CEU][hapmap] |
rs2647548 | 0.94[CEU][hapmap] |
rs2647550 | 0.94[CEU][hapmap] |
rs2647551 | 1.00[CEU][hapmap] |
rs2647552 | 0.94[CEU][hapmap] |
rs2647555 | 0.94[CEU][hapmap] |
rs2647556 | 0.94[CEU][hapmap] |
rs2647561 | 0.94[CEU][hapmap] |
rs2647563 | 0.94[CEU][hapmap] |
rs2647570 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2647571 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2647572 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2647573 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs2647574 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2647584 | 0.94[CEU][hapmap] |
rs2647586 | 0.83[CEU][hapmap] |
rs2723375 | 0.94[CEU][hapmap] |
rs2723388 | 0.82[AFR][1000 genomes] |
rs2736525 | 0.94[CEU][hapmap] |
rs2736531 | 0.94[CEU][hapmap] |
rs2736532 | 0.94[CEU][hapmap] |
rs2736538 | 0.94[CEU][hapmap] |
rs2736539 | 0.94[CEU][hapmap] |
rs2736540 | 0.94[CEU][hapmap] |
rs2736584 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2736585 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2736586 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2736587 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2736588 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2736590 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2736591 | 0.94[CEU][hapmap];0.85[EUR][1000 genomes] |
rs4910781 | 0.84[AFR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1048608 | chr11:5328516-5645179 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 60 gene(s) | inside rSNPs | diseases |
2 | nsv1046068 | chr11:5335943-6063742 | Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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 | 89 gene(s) | inside rSNPs | diseases |
3 | nsv896931 | chr11:5357881-5505149 | Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
4 | nsv832057 | chr11:5375585-5576200 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 51 gene(s) | inside rSNPs | diseases |
5 | esv2761646 | chr11:5406123-5454241 | Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | inside rSNPs | diseases |
6 | nsv430314 | chr11:5411744-5496924 | Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 25 gene(s) | inside rSNPs | diseases |
7 | esv2757420 | chr11:5416622-5492033 | Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 25 gene(s) | inside rSNPs | diseases |
8 | esv2759800 | chr11:5416622-5492033 | Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 25 gene(s) | inside rSNPs | diseases |
9 | nsv896934 | chr11:5427118-5450387 | Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv896935 | chr11:5427118-5490077 | Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 20 gene(s) | inside rSNPs | diseases |
11 | nsv896937 | chr11:5427118-5493309 | Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
12 | nsv896936 | chr11:5427118-5493370 | Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
13 | esv34391 | chr11:5431984-5493309 | Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
14 | nsv1050290 | chr11:5440287-5497617 | Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
15 | nsv1046764 | chr11:5442226-5497617 | Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:5444400-5447000 | Weak transcription | K562 | blood |
2 | chr11:5445200-5445600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |