Variant report
| Variant | rs12371937 |
|---|---|
| Chromosome Location | chr12:74415881-74415882 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:186)
- 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 |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:74415343..74416036-chr12:74759116..74760027,3 | MCF-7 | breast: | |
| 2 | chr12:74412851..74416125-chr12:74417786..74420927,4 | MCF-7 | breast: | |
| 3 | chr12:74415389..74416204-chr12:74806037..74807059,3 | MCF-7 | breast: | |
| 4 | chr12:74415312..74416230-chr12:74710631..74711359,2 | MCF-7 | breast: | |
| 5 | chr12:74415701..74416228-chr12:74504378..74504925,2 | MCF-7 | breast: | |
| 6 | chr12:74415229..74416317-chr12:74501474..74502787,6 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000264155 | TF binding region |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs11179876 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs11179877 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11179887 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11179934 | 0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11179935 | 0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11179936 | 1.00[CEU][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes] |
| rs11179937 | 0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11179939 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11179952 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11179956 | 0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11179959 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs11519906 | 0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11519908 | 0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12367080 | 0.87[EUR][1000 genomes] |
| rs12368899 | 0.86[EUR][1000 genomes] |
| rs12369664 | 0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12370683 | 0.89[EUR][1000 genomes] |
| rs12371812 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2365430 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2886202 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs56051388 | 0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs73178707 | 0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs73180604 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1037030 | chr12:73898311-74656764 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv541537 | chr12:73898311-74656764 | ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 3 | nsv1039468 | chr12:74080586-75000246 | Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 4 | esv2755812 | chr12:74110833-74557833 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 5 | nsv899280 | chr12:74275190-74427611 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 6 | nsv1051343 | chr12:74299959-74423909 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 7 | nsv1041875 | chr12:74299959-74425449 | ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 8 | nsv899281 | chr12:74302874-74427611 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 9 | nsv559390 | chr12:74307540-74417793 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 10 | nsv1037477 | chr12:74309535-74416922 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 11 | nsv1044954 | chr12:74309535-74423909 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 12 | nsv1047932 | chr12:74309535-74425449 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 13 | nsv899282 | chr12:74315252-74505531 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 14 | nsv469469 | chr12:74355828-74505531 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 15 | nsv559391 | chr12:74355828-74505531 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 16 | nsv899283 | chr12:74360978-74609860 | Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:74415600-74416000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr12:74415600-74416000 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 3 | chr12:74415600-74416000 | Enhancers | K562 | blood |
| 4 | chr12:74415800-74416000 | Enhancers | Pancreas | Pancrea |
| 5 | chr12:74415800-74416000 | Enhancers | Spleen | Spleen |
| 6 | chr12:74415800-74416000 | Flanking Active TSS | A549 | lung |
