Variant report
| Variant | rs1999992 |
|---|---|
| Chromosome Location | chr1:165780123-165780124 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000143183 | Chromatin interaction |
| ENSG00000143179 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs10800152 | 0.86[CHB][hapmap] |
| rs10800159 | 0.93[EUR][1000 genomes] |
| rs10918281 | 0.85[CHB][hapmap] |
| rs10918289 | 0.83[EUR][1000 genomes] |
| rs11578163 | 0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12127304 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs12131697 | 0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12565963 | 0.85[EUR][1000 genomes] |
| rs2153263 | 0.86[CHB][hapmap];0.81[JPT][hapmap] |
| rs2153264 | 0.86[CHB][hapmap];0.81[JPT][hapmap] |
| rs2790057 | 0.86[CHB][hapmap];0.81[JPT][hapmap] |
| rs4656462 | 0.86[CHB][hapmap] |
| rs6656194 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs6682864 | 0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2756102 | chr1:165652342-165877342 | Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv1011720 | chr1:165669589-165802516 | Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:165778800-165781400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
