Variant report
| Variant | rs6700848 |
|---|---|
| Chromosome Location | chr1:192864331-192864332 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:192809794..192812328-chr1:192861715..192864449,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10921281 | 0.94[EUR][1000 genomes] |
| rs12076933 | 0.94[EUR][1000 genomes] |
| rs12087043 | 0.94[EUR][1000 genomes] |
| rs12091901 | 1.00[EUR][1000 genomes] |
| rs16834887 | 1.00[EUR][1000 genomes] |
| rs16834924 | 0.94[EUR][1000 genomes] |
| rs16834941 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16834945 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs60641679 | 0.94[EUR][1000 genomes] |
| rs61394494 | 0.94[EUR][1000 genomes] |
| rs6428139 | 1.00[EUR][1000 genomes] |
| rs6660343 | 1.00[EUR][1000 genomes] |
| rs6661981 | 1.00[EUR][1000 genomes] |
| rs715422 | 1.00[EUR][1000 genomes] |
| rs7514204 | 1.00[EUR][1000 genomes] |
| rs7517082 | 0.91[AFR][1000 genomes] |
| rs7523033 | 0.94[EUR][1000 genomes] |
| rs7530747 | 0.94[EUR][1000 genomes] |
| rs7542329 | 0.94[EUR][1000 genomes] |
| rs7553650 | 0.91[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 | nsv532618 | chr1:192537006-193149179 | Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 70 gene(s) | inside rSNPs | diseases |
| 2 | nsv548660 | chr1:192609268-192945348 | Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 22 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:192862800-192870800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
