Variant report
| Variant | rs57175707 |
|---|---|
| Chromosome Location | chr8:110488055-110488056 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr8:110488025-110488110 | MCF10A-Er-Src | breast: | n/a | n/a |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:110485934..110489021-chr8:110489156..110492335,3 | MCF-7 | breast: | |
| 2 | chr8:110476428..110479434-chr8:110485234..110488569,3 | MCF-7 | breast: | |
| 3 | chr8:110487318..110489249-chr8:110492747..110497686,4 | MCF-7 | breast: | |
| 4 | chr8:110486659..110490072-chr8:110550556..110553701,4 | MCF-7 | breast: | |
| 5 | chr8:110487176..110489206-chr8:110656234..110658951,2 | MCF-7 | breast: | |
| 6 | chr8:110484343..110486206-chr8:110487564..110489651,2 | K562 | blood: | |
| 7 | chr8:110486322..110490229-chr8:110490493..110494144,5 | MCF-7 | breast: | |
| 8 | chr8:110483309..110485365-chr8:110487237..110489170,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PKHD1L1 | TF binding region |
| ENSG00000147654 | Chromatin interaction |
| ENSG00000248050 | Chromatin interaction |
| ENSG00000147642 | Chromatin interaction |
| ENSG00000205038 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs10441509 | 1.00[EUR][1000 genomes] |
| rs16879567 | 0.89[AFR][1000 genomes] |
| rs16879571 | 0.89[AFR][1000 genomes] |
| rs16879659 | 1.00[EUR][1000 genomes] |
| rs16879674 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16879693 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16879696 | 1.00[EUR][1000 genomes] |
| rs16918465 | 1.00[EUR][1000 genomes] |
| rs1824191 | 1.00[EUR][1000 genomes] |
| rs2124979 | 1.00[EUR][1000 genomes] |
| rs2124980 | 0.85[AFR][1000 genomes] |
| rs56106062 | 1.00[EUR][1000 genomes] |
| rs56810186 | 1.00[EUR][1000 genomes] |
| rs57080527 | 1.00[EUR][1000 genomes] |
| rs57556233 | 1.00[EUR][1000 genomes] |
| rs57608746 | 1.00[EUR][1000 genomes] |
| rs58602890 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60917031 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61247948 | 1.00[EUR][1000 genomes] |
| rs73700614 | 1.00[EUR][1000 genomes] |
| rs73700615 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73700627 | 1.00[EUR][1000 genomes] |
| rs73700631 | 1.00[EUR][1000 genomes] |
| rs73704006 | 0.89[AFR][1000 genomes] |
| rs73704007 | 0.95[AFR][1000 genomes] |
| rs73704009 | 0.89[AFR][1000 genomes] |
| rs73704014 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73704016 | 0.85[AFR][1000 genomes] |
| rs73704021 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73704027 | 1.00[EUR][1000 genomes] |
| rs73704033 | 1.00[EUR][1000 genomes] |
| rs73704041 | 1.00[EUR][1000 genomes] |
| rs73704044 | 0.89[EUR][1000 genomes] |
| rs7819565 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1018510 | chr8:110403496-110504029 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv891281 | chr8:110450092-110558622 | Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 15 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:110463200-110492400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr8:110486800-110491200 | Weak transcription | Stomach Mucosa | stomach |
| 3 | chr8:110487800-110495000 | Weak transcription | Liver | Liver |
