Variant report
Variant | rs11050696 |
---|---|
Chromosome Location | chr12:30318041-30318042 |
allele | A/G |
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:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:30307525..30310508-chr12:30315898..30318662,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10771651 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs10843621 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs10843626 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11050671 | 0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11050686 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11050695 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1485439 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs1843322 | 0.88[AMR][1000 genomes] |
rs1843323 | 0.82[AMR][1000 genomes] |
rs2171042 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2351212 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7133761 | 0.81[AFR][1000 genomes] |
rs7296419 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7311168 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv948495 | chr12:30090771-30344772 | ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
2 | nsv1042081 | chr12:30147993-30344670 | Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
3 | nsv541436 | chr12:30147993-30344670 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
4 | nsv821695 | chr12:30287314-30450174 | Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv1050757 | chr12:30288879-30329142 | Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | nsv1035561 | chr12:30288879-30336486 | Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | nsv516421 | chr12:30309076-30411299 | Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:30316800-30319200 | Enhancers | Fetal Lung | lung |
2 | chr12:30317400-30318200 | Enhancers | Fetal Stomach | stomach |