Variant report
| Variant | rs1451323 |
|---|---|
| Chromosome Location | chr11:57934090-57934091 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | STAT3 | chr11:57933982-57934379 | MCF10A-Er-Src | breast: | n/a | n/a |
| 2 | CEBPB | chr11:57933895-57934195 | HepG2 | liver: | n/a | chr11:57934032-57934043 |
| 3 | FOS | chr11:57933902-57934233 | MCF10A-Er-Src | breast: | n/a | n/a |
| 4 | STAT3 | chr11:57933909-57934300 | MCF10A-Er-Src | breast: | n/a | n/a |
| 5 | FOS | chr11:57933932-57934223 | MCF10A-Er-Src | breast: | n/a | n/a |
| 6 | STAT3 | chr11:57933925-57934361 | MCF10A-Er-Src | breast: | n/a | n/a |
| 7 | CEBPB | chr11:57933976-57934113 | A549 | lung: | n/a | chr11:57934032-57934043 |
| 8 | FOS | chr11:57933893-57934241 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:57933220..57935191-chr11:57939017..57941040,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| OR5BL1P | TF binding region |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs1020538 | 0.87[JPT][hapmap] |
| rs10459013 | 0.80[ASN][1000 genomes] |
| rs10750888 | 0.82[ASN][1000 genomes] |
| rs10792140 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs10896706 | 0.81[ASN][1000 genomes] |
| rs11229268 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11229273 | 0.91[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs12807327 | 0.90[JPT][hapmap] |
| rs1349482 | 0.82[CHB][hapmap];0.91[JPT][hapmap] |
| rs1447169 | 1.00[YRI][hapmap] |
| rs1451322 | 0.87[JPT][hapmap] |
| rs3911229 | 0.86[ASN][1000 genomes] |
| rs4939182 | 1.00[YRI][hapmap] |
| rs61327440 | 0.81[ASN][1000 genomes] |
| rs964720 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1044030 | chr11:57073395-58035564 | Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 136 gene(s) | inside rSNPs | diseases |
| 2 | nsv541047 | chr11:57073395-58035564 | Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 136 gene(s) | inside rSNPs | diseases |
| 3 | nsv1054205 | chr11:57544264-58358509 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 67 gene(s) | inside rSNPs | diseases |
| 4 | nsv897589 | chr11:57623815-58052357 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
| 5 | nsv832165 | chr11:57806024-58009076 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 6 | nsv832166 | chr11:57852031-58006189 | Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 7 | nsv832167 | chr11:57912509-57948750 | Enhancers Weak transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 8 | nsv1039453 | chr11:57924680-58119650 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 9 | nsv541051 | chr11:57924680-58119650 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:57930800-57935400 | Enhancers | HepG2 | liver |
| 2 | chr11:57931000-57934400 | Enhancers | Fetal Intestine Large | intestine |
| 3 | chr11:57932600-57934200 | Enhancers | Small Intestine | intestine |
