Variant report
Variant | rs10808580 |
---|---|
Chromosome Location | chr8:130438571-130438572 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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rs_ID | r2[population] |
---|---|
rs10100977 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs10103083 | 0.94[ASN][1000 genomes] |
rs10105579 | 0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10808579 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1118872 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1124682 | 0.94[ASN][1000 genomes] |
rs11782132 | 0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes] |
rs11787238 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12545968 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs13250815 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1465680 | 0.94[ASN][1000 genomes] |
rs1583247 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1594596 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1835848 | 0.84[AMR][1000 genomes];0.84[ASN][1000 genomes] |
rs1963881 | 0.85[ASN][1000 genomes] |
rs2007003 | 0.85[ASN][1000 genomes] |
rs2012753 | 0.88[ASN][1000 genomes] |
rs2579865 | 0.87[EUR][1000 genomes] |
rs2630514 | 0.87[EUR][1000 genomes] |
rs2719203 | 0.86[EUR][1000 genomes] |
rs2719212 | 0.88[EUR][1000 genomes] |
rs4733549 | 0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4733707 | 0.94[ASN][1000 genomes] |
rs56678522 | 0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6995168 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs7015941 | 0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs744652 | 0.83[AMR][1000 genomes];0.98[ASN][1000 genomes] |
rs7828064 | 0.88[EUR][1000 genomes] |
rs7828127 | 0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs891833 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs9694939 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs976912 | 0.88[EUR][1000 genomes] |
rs985688 | 0.88[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv429942 | chr8:130397818-130460011 | Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
2 | nsv6394 | chr8:130421502-130446035 | Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
3 | esv3498936 | chr8:130434070-130444018 | Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
4 | esv3498939 | chr8:130434470-130444018 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
5 | esv3480631 | chr8:130434987-130443051 | Enhancers Weak transcription Flanking Active TSS Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
6 | esv3480632 | chr8:130435024-130443088 | Enhancers Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
7 | esv3498937 | chr8:130435065-130443077 | Enhancers Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
8 | esv3498942 | chr8:130435085-130443122 | Genic enhancers Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
9 | esv3498938 | chr8:130435102-130442996 | Enhancers Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
10 | esv3498940 | chr8:130435130-130442953 | Weak transcription Enhancers Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
11 | esv3480633 | chr8:130435190-130442879 | Enhancers Weak transcription Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
12 | nsv499239 | chr8:130435195-130442879 | Weak transcription Enhancers Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
13 | esv20800 | chr8:130435196-130442658 | Weak transcription Enhancers Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
14 | esv3498943 | chr8:130435196-130442879 | Weak transcription Enhancers Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:130427000-130449000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr8:130434800-130443800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr8:130436400-130443800 | Weak transcription | Thymus | Thymus |
4 | chr8:130436600-130443800 | Weak transcription | K562 | blood |
5 | chr8:130437600-130439400 | Weak transcription | Dnd41 | blood |