Variant report
| Variant | rs1857730 |
|---|---|
| Chromosome Location | chr12:60809404-60809405 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:60800545..60802133-chr12:60807687..60809552,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257865 | TF binding region |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs1021887 | 0.82[CHB][hapmap] |
| rs10877422 | 0.87[CHB][hapmap] |
| rs10877431 | 0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs10877432 | 0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs1119988 | 0.83[ASN][1000 genomes] |
| rs12231371 | 0.81[CHB][hapmap] |
| rs1504459 | 0.87[CHB][hapmap];0.82[JPT][hapmap] |
| rs1566846 | 1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1566847 | 0.88[CHB][hapmap];0.80[ASN][1000 genomes] |
| rs1580916 | 0.85[ASN][1000 genomes] |
| rs1604865 | 0.81[ASN][1000 genomes] |
| rs1604869 | 0.81[CHB][hapmap] |
| rs1827638 | 0.85[ASN][1000 genomes] |
| rs2102257 | 0.81[ASN][1000 genomes] |
| rs2102258 | 0.82[CHB][hapmap] |
| rs2262939 | 0.83[ASN][1000 genomes] |
| rs2455998 | 0.80[ASN][1000 genomes] |
| rs2655842 | 0.82[ASN][1000 genomes] |
| rs2655843 | 0.82[ASN][1000 genomes] |
| rs2655846 | 0.81[ASN][1000 genomes] |
| rs2655848 | 0.83[ASN][1000 genomes] |
| rs2655856 | 0.85[ASN][1000 genomes] |
| rs2655871 | 0.83[ASN][1000 genomes] |
| rs2655886 | 0.91[CHB][hapmap];0.82[JPT][hapmap] |
| rs2655893 | 0.81[ASN][1000 genomes] |
| rs2655899 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2731465 | 0.85[ASN][1000 genomes] |
| rs2731487 | 0.82[ASN][1000 genomes] |
| rs2731488 | 0.82[ASN][1000 genomes] |
| rs2731491 | 0.80[ASN][1000 genomes] |
| rs2731492 | 0.82[ASN][1000 genomes] |
| rs7963214 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7971143 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7979532 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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 | nsv1054287 | chr12:60601870-60861866 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv1047466 | chr12:60702221-61521156 | Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv832432 | chr12:60801619-60968907 | Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60808800-60810400 | Strong transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:60809400-60809600 | Bivalent Enhancer | ES-UCSF4 Cell Line | embryonic stem cell |
