Variant report
| Variant | rs259849 |
|---|---|
| Chromosome Location | chr2:180732693-180732694 |
| 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 | chr2:180724511..180728493-chr2:180729164..180732918,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000221240 | Chromatin interaction |
| ENSG00000144331 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10169684 | 0.80[EUR][1000 genomes] |
| rs10930887 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12328338 | 0.80[ASN][1000 genomes] |
| rs1383413 | 0.91[ASN][1000 genomes] |
| rs1486233 | 0.80[ASN][1000 genomes] |
| rs1486236 | 0.80[EUR][1000 genomes] |
| rs16867045 | 0.88[ASN][1000 genomes] |
| rs187745 | 0.80[EUR][1000 genomes] |
| rs194674 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2170240 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2219670 | 0.80[ASN][1000 genomes] |
| rs2367797 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs259831 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs259833 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2630539 | 0.80[EUR][1000 genomes];0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1002305 | chr2:180568558-180812846 | Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv428731 | chr2:180629389-180805171 | Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv875472 | chr2:180696414-181024926 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv875473 | chr2:180696414-181055597 | Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
