Variant report
| Variant | rs2519539 |
|---|---|
| Chromosome Location | chr12:119916218-119916219 |
| allele | A/G |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:119614742..119619324-chr12:119914452..119918204,4 | MCF-7 | breast: | |
| 2 | chr12:119913085..119915232-chr12:119915354..119917050,2 | MCF-7 | breast: | |
| 3 | chr12:119882836..119888025-chr12:119914651..119920477,9 | MCF-7 | breast: | |
| 4 | chr12:119915459..119919519-chr12:119922678..119926603,4 | MCF-7 | breast: | |
| 5 | chr12:119894815..119897126-chr12:119915080..119916947,2 | MCF-7 | breast: | |
| 6 | chr12:119883274..119886371-chr12:119915842..119918823,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000152137 | Chromatin interaction |
| rs_ID | r2[population] |
|---|---|
| rs10774498 | 0.91[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1619163 | 0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs1620946 | 1.00[YRI][hapmap] |
| rs1622645 | 0.91[CEU][hapmap];1.00[YRI][hapmap] |
| rs1716433 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs1716446 | 1.00[CEU][hapmap] |
| rs1727387 | 0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs1727390 | 0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs2519540 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2519542 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs2695503 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
| rs2727742 | 0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs6490255 | 0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs697892 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
| rs708874 | 1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs708875 | 1.00[YRI][hapmap] |
| rs708879 | 1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs784841 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs784844 | 0.94[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs784853 | 1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs810784 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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 | nsv1047036 | chr12:119477583-119992640 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv916688 | chr12:119801814-120044407 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv832529 | chr12:119863378-120071646 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |





