Variant report
| Variant | rs551862 |
|---|---|
| Chromosome Location | chr1:193265408-193265409 |
| 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 | chr1:193263342..193265639-chr1:193268486..193270329,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs1221501 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1536100 | 1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.89[AFR][1000 genomes] |
| rs16835204 | 0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes] |
| rs2265555 | 0.90[AFR][1000 genomes] |
| rs41305084 | 0.90[AFR][1000 genomes] |
| rs4657746 | 0.89[AFR][1000 genomes] |
| rs506721 | 0.90[AFR][1000 genomes] |
| rs56986460 | 0.96[AFR][1000 genomes] |
| rs6682435 | 1.00[MEX][hapmap] |
| rs74130932 | 0.83[AFR][1000 genomes] |
| rs74130935 | 0.83[AFR][1000 genomes] |
| rs74130936 | 0.88[AFR][1000 genomes] |
| rs74130937 | 0.89[AFR][1000 genomes] |
| rs74130938 | 0.96[AFR][1000 genomes] |
| rs74130939 | 0.96[AFR][1000 genomes] |
| rs74130940 | 0.93[AFR][1000 genomes] |
| rs74130941 | 0.90[AFR][1000 genomes] |
| rs74130942 | 0.90[AFR][1000 genomes] |
| rs7518409 | 0.83[AFR][1000 genomes] |
| rs7538408 | 0.84[AFR][1000 genomes] |
| rs7551600 | 0.83[AFR][1000 genomes] |
| rs7556154 | 1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes] |
| rs7556241 | 1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes] |
| rs817134 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs817135 | 0.90[AFR][1000 genomes] |
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 | nsv832148 | chr1:193143945-193292897 | Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv872831 | chr1:193152317-193322087 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv1001174 | chr1:193186758-193363372 | Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:193243800-193267800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr1:193255200-193280400 | Weak transcription | HSMM | muscle |
