Variant report
| Variant | rs2093336 |
|---|---|
| Chromosome Location | chr1:67537175-67537176 |
| allele | A/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 | chr1:67527439..67529751-chr1:67536088..67538799,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs11799729 | 0.81[AFR][1000 genomes] |
| rs11799739 | 0.84[AFR][1000 genomes] |
| rs11801593 | 0.81[AFR][1000 genomes] |
| rs11801606 | 0.81[AFR][1000 genomes] |
| rs11803348 | 0.81[AFR][1000 genomes] |
| rs11805123 | 0.83[AFR][1000 genomes] |
| rs11806560 | 0.95[YRI][hapmap];0.83[AFR][1000 genomes] |
| rs11807091 | 0.83[AFR][1000 genomes] |
| rs11808071 | 0.81[AFR][1000 genomes] |
| rs12239021 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12240164 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17129650 | 0.95[YRI][hapmap];0.81[AFR][1000 genomes] |
| rs1885279 | 0.95[YRI][hapmap] |
| rs1885280 | 0.95[YRI][hapmap] |
| rs2145812 | 1.00[CHB][hapmap];0.83[JPT][hapmap] |
| rs2815385 | 1.00[CHB][hapmap];0.82[JPT][hapmap] |
| rs28721308 | 0.81[AFR][1000 genomes] |
| rs4655673 | 1.00[CHB][hapmap];0.83[JPT][hapmap] |
| rs57551060 | 0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57809715 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs67445597 | 0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs72931969 | 0.83[AFR][1000 genomes] |
| rs72931971 | 0.84[AFR][1000 genomes] |
| rs72933963 | 0.81[AFR][1000 genomes] |
| rs72933965 | 0.81[AFR][1000 genomes] |
| rs72933967 | 0.81[AFR][1000 genomes] |
| rs72933970 | 0.81[AFR][1000 genomes] |
| rs72933972 | 0.81[AFR][1000 genomes] |
| rs72933974 | 0.81[AFR][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 | nsv461751 | chr1:67479598-67689036 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | nsv546445 | chr1:67479598-67689036 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:67536800-67540200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
