Variant report
| Variant | rs12028885 |
|---|---|
| Chromosome Location | chr1:166698599-166698600 |
| 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 | chr1:166457621..166460711-chr1:166696739..166699758,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000234142 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs12027782 | 0.87[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs12030491 | 0.81[EUR][1000 genomes] |
| rs12033500 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs12036000 | 0.81[EUR][1000 genomes] |
| rs12046226 | 0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12048648 | 0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2184662 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs3845545 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs55872343 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs56164733 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs61670955 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs72701363 | 0.81[EUR][1000 genomes] |
| rs72701393 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs72701401 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7548967 | 0.82[AMR][1000 genomes];0.81[EUR][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 | nsv916491 | chr1:166000783-166948513 | Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| 2 | esv2752389 | chr1:166625342-166706342 | Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
