Variant report
| Variant | rs1245005 |
|---|---|
| Chromosome Location | chr1:215004617-215004618 |
| allele | G/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:214996798..214998880-chr1:215003398..215005711,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs11587867 | 0.81[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1244995 | 0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1244997 | 0.97[ASN][1000 genomes] |
| rs1245000 | 0.81[AMR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1245002 | 0.99[ASN][1000 genomes] |
| rs1245003 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1245004 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1245007 | 0.81[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1245009 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1245010 | 0.83[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1245011 | 0.88[CHB][hapmap] |
| rs1261868 | 0.97[ASN][1000 genomes] |
| rs1261869 | 0.97[ASN][1000 genomes] |
| rs1272551 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1764593 | 0.96[ASN][1000 genomes] |
| rs1764594 | 0.95[ASN][1000 genomes] |
| rs1764595 | 0.87[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1764596 | 0.96[ASN][1000 genomes] |
| rs1779664 | 0.96[ASN][1000 genomes] |
| rs1779665 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2799959 | 0.89[ASN][1000 genomes] |
| rs4359011 | 0.97[ASN][1000 genomes] |
| rs4359012 | 0.97[ASN][1000 genomes] |
| rs4375235 | 0.97[ASN][1000 genomes] |
| rs4596850 | 0.97[ASN][1000 genomes] |
| rs6664793 | 0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs9429920 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs945676 | 0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1004475 | chr1:214763778-215013375 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | esv2752443 | chr1:214939605-215006605 | Enhancers Weak transcription Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv873167 | chr1:214950361-215116947 | Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 4 | nsv873168 | chr1:214962771-215064388 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 5 | nsv523081 | chr1:214999519-215006939 | Enhancers Weak transcription ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:214997200-215006200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr1:215002000-215019600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr1:215004600-215005800 | Weak transcription | NHDF-Ad | bronchial |
