Variant report
| Variant | rs944041 |
|---|---|
| Chromosome Location | chr1:196585217-196585218 |
| allele | C/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 | chr1:196577930..196580028-chr1:196583597..196585920,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000162687 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10754193 | 1.00[CEU][hapmap] |
| rs10922065 | 0.81[GIH][hapmap] |
| rs12075206 | 0.81[GIH][hapmap] |
| rs12128003 | 1.00[CEU][hapmap] |
| rs12128544 | 1.00[CEU][hapmap] |
| rs13375443 | 1.00[CEU][hapmap] |
| rs13375567 | 1.00[CEU][hapmap] |
| rs16840422 | 1.00[CHB][hapmap] |
| rs2019727 | 0.89[CHB][hapmap] |
| rs2183225 | 1.00[CEU][hapmap] |
| rs2335906 | 1.00[CEU][hapmap] |
| rs3766404 | 1.00[CHB][hapmap] |
| rs4314834 | 1.00[CEU][hapmap] |
| rs4507960 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes] |
| rs4515738 | 1.00[CEU][hapmap] |
| rs4625226 | 1.00[CEU][hapmap] |
| rs4658040 | 1.00[CEU][hapmap] |
| rs480266 | 0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs487114 | 1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes] |
| rs499807 | 1.00[CEU][hapmap];0.85[JPT][hapmap] |
| rs512900 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
| rs539917 | 0.97[ASN][1000 genomes] |
| rs558024 | 0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6428350 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6663649 | 1.00[CEU][hapmap] |
| rs7533533 | 1.00[CEU][hapmap] |
| rs7540922 | 1.00[CEU][hapmap] |
| rs7547724 | 1.00[CEU][hapmap];0.81[GIH][hapmap] |
| rs7551203 | 1.00[CEU][hapmap] |
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 | nsv931415 | chr1:196270759-196744780 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv528460 | chr1:196542567-197446702 | Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
