Variant report
| Variant | rs1555040 |
|---|---|
| Chromosome Location | chr6:27314071-27314072 |
| allele | C/G |
| 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 | chr6:27312534..27315456-chr6:27356408..27358043,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000124613 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs1127574 | 0.98[ASN][1000 genomes] |
| rs12199213 | 0.98[ASN][1000 genomes] |
| rs12213055 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs17688516 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17739310 | 0.84[CHD][hapmap] |
| rs17739702 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17739727 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs2064092 | 0.81[CHD][hapmap];0.89[JPT][hapmap] |
| rs4145206 | 0.84[CHD][hapmap] |
| rs55923531 | 0.89[ASN][1000 genomes] |
| rs62622793 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72839482 | 0.91[ASN][1000 genomes] |
| rs764285 | 0.85[ASN][1000 genomes] |
| rs9461357 | 0.84[CHD][hapmap] |
| rs9461362 | 0.84[CHD][hapmap];1.00[JPT][hapmap] |
| rs9461363 | 0.88[ASN][1000 genomes] |
| rs9461366 | 0.85[ASN][1000 genomes] |
| rs9468067 | 0.84[CHD][hapmap] |
| rs9468076 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs9468149 | 0.90[CHD][hapmap];0.89[JPT][hapmap] |
| rs9468152 | 0.89[JPT][hapmap] |
| rs9468153 | 0.89[JPT][hapmap] |
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 | nsv948921 | chr6:26556890-27443957 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 472 gene(s) | inside rSNPs | diseases |
| 2 | nsv1017328 | chr6:27177147-27369588 | Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
| 3 | nsv883507 | chr6:27279982-27318836 | Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1555040 | ZNF204P | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:27301400-27321400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 2 | chr6:27313000-27318200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
