Variant report
Variant | rs12599948 |
---|---|
Chromosome Location | chr16:71403083-71403084 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:71401686..71403316-chr16:71406580..71408620,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CALB2 | TF binding region |
rs_ID | r2[population] |
---|---|
rs11075886 | 0.81[ASN][1000 genomes] |
rs11075887 | 0.81[ASN][1000 genomes] |
rs12373064 | 0.81[ASN][1000 genomes] |
rs12447325 | 0.92[CEU][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs12597011 | 0.81[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes] |
rs12597949 | 0.83[CHD][hapmap];0.82[ASN][1000 genomes] |
rs34297868 | 0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs34659305 | 0.81[ASN][1000 genomes] |
rs34770624 | 0.82[ASN][1000 genomes] |
rs35050747 | 0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs35060794 | 0.82[ASN][1000 genomes] |
rs35097873 | 0.81[ASN][1000 genomes] |
rs35658577 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs35886140 | 0.81[ASN][1000 genomes] |
rs36086613 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs3935259 | 1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4412976 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4630548 | 0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4788541 | 0.82[CHB][hapmap] |
rs6499513 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs71389652 | 0.93[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs7196440 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7203012 | 1.00[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72789961 | 0.82[ASN][1000 genomes] |
rs746732 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs8054321 | 0.86[CHB][hapmap] |
rs8059488 | 0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs9929629 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs9935618 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9940728 | 0.81[CHD][hapmap];0.82[JPT][hapmap] |
rs9940982 | 0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv949461 | chr16:71196153-71579711 | ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 41 gene(s) | inside rSNPs | diseases |
2 | nsv1062426 | chr16:71307180-71423400 | Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
3 | nsv572949 | chr16:71352071-71426563 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
4 | nsv984242 | chr16:71401590-71404832 | Weak transcription Enhancers Bivalent Enhancer | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:71398200-71407000 | Weak transcription | Right Atrium | heart |
2 | chr16:71398800-71419800 | Weak transcription | Brain Germinal Matrix | brain |
3 | chr16:71399600-71405200 | Weak transcription | Adipose Nuclei | Adipose |
4 | chr16:71402000-71403400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
5 | chr16:71402200-71413600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |