Variant report
Variant | rs7126489 |
---|---|
Chromosome Location | chr11:58675461-58675462 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | SPI1 | chr11:58675266-58675644 | GM12891 | blood: | n/a | n/a |
2 | SPI1 | chr11:58675191-58675652 | GM12891 | blood: | n/a | n/a |
3 | SPI1 | chr11:58675278-58675578 | GM12878 | blood: | n/a | n/a |
4 | SPI1 | chr11:58675101-58675766 | GM12878 | blood: | n/a | n/a |
5 | IRF4 | chr11:58675265-58675621 | GM12878 | blood: | n/a | n/a |
6 | SPI1 | chr11:58675300-58675520 | GM12878 | blood: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:58671775..58674615-chr11:58675003..58676520,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
GLYATL2 | TF binding region |
ENSG00000224130 | Chromatin interaction |
ENSG00000166840 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10792206 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10792207 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10896872 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896873 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896874 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896875 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896876 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896877 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896878 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10896879 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10896880 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10896882 | 1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10896883 | 0.90[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10896884 | 0.90[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11229687 | 0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11229688 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11229689 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11229692 | 0.84[ASN][1000 genomes] |
rs11229693 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11229694 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11229695 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11229701 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11229704 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11229705 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11229708 | 0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11229711 | 0.97[ASN][1000 genomes] |
rs12222588 | 0.86[JPT][hapmap] |
rs12222597 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12223443 | 0.81[ASN][1000 genomes] |
rs12272494 | 0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12277628 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12278662 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12281983 | 0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12292314 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1808064 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1815856 | 0.94[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1893627 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1893628 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1893629 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1938786 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1943264 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2156344 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2156345 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2156349 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs3740950 | 0.82[ASN][1000 genomes] |
rs4271397 | 0.90[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4547111 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4573693 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4939243 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56155456 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs58848038 | 0.90[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs61889804 | 0.88[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs61889805 | 0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs61892604 | 0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7108461 | 1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7118637 | 0.94[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7129011 | 1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs73483072 | 0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7930111 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7939049 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs948818 | 0.83[ASN][1000 genomes] |
rs948819 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs9787921 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1050013 | chr11:58394598-59221090 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 67 gene(s) | inside rSNPs | diseases |
2 | nsv948365 | chr11:58515163-59156405 | Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 59 gene(s) | inside rSNPs | diseases |
3 | nsv1052173 | chr11:58553516-58678496 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | esv3444895 | chr11:58614102-58779384 | Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
5 | esv3445007 | chr11:58638330-58709867 | Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
6 | esv3502182 | chr11:58668199-58731237 | Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
7 | esv3502181 | chr11:58668236-58731215 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
8 | esv3478019 | chr11:58668282-58731214 | Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
9 | esv3478030 | chr11:58668282-58731214 | Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
10 | esv3502183 | chr11:58668353-58731177 | Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:58673800-58682200 | Weak transcription | NH-A | brain |
2 | chr11:58674000-58679200 | Weak transcription | NHEK | skin |
3 | chr11:58674000-58682200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
4 | chr11:58674200-58676000 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
5 | chr11:58674200-58679600 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
6 | chr11:58674200-58679600 | Weak transcription | HMEC | breast |
7 | chr11:58674200-58682200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
8 | chr11:58674400-58676200 | Enhancers | Primary monocytes fromperipheralblood | blood |
9 | chr11:58674400-58677400 | Weak transcription | Fetal Intestine Small | intestine |
10 | chr11:58674800-58675800 | Enhancers | Primary B cells from cord blood | blood |
11 | chr11:58675400-58675800 | Bivalent Enhancer | Primary B cells from peripheral blood | blood |