Variant report
Variant | rs2019684 |
---|---|
Chromosome Location | chr2:50540785-50540786 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10178331 | 0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes] |
rs10203511 | 1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes] |
rs11897143 | 0.86[ASN][1000 genomes] |
rs11899106 | 0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11904611 | 0.81[ASN][1000 genomes] |
rs1217436 | 0.83[CHB][hapmap];0.88[CHD][hapmap] |
rs1402130 | 0.88[ASN][1000 genomes] |
rs1554284 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1915167 | 0.95[CEU][hapmap];0.85[JPT][hapmap] |
rs1915168 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4971664 | 1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap] |
rs6545163 | 0.81[ASW][hapmap];0.95[CEU][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs6732772 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs6736896 | 0.90[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs6737125 | 1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6738321 | 0.87[ASN][1000 genomes] |
rs6738658 | 0.90[ASN][1000 genomes] |
rs6746003 | 0.87[ASN][1000 genomes] |
rs72874477 | 0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7556697 | 1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7577485 | 0.88[ASN][1000 genomes] |
rs7577502 | 1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7584172 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7591346 | 0.88[ASN][1000 genomes] |
rs9309181 | 0.84[CHD][hapmap] |
rs939425 | 0.84[MEX][hapmap] |
rs9973348 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3388948 | chr2:50092667-50602681 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
2 | esv3399511 | chr2:50092687-50602651 | Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
3 | nsv932915 | chr2:50306630-50628415 | Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
4 | nsv492164 | chr2:50399251-51029090 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
5 | nsv1000653 | chr2:50417660-51083470 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
6 | nsv535693 | chr2:50417660-51083470 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
7 | nsv1000087 | chr2:50501395-50581229 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:50540400-50542800 | Enhancers | Fetal Brain Female | brain |
2 | chr2:50540400-50543200 | Enhancers | Fetal Brain Male | brain |
3 | chr2:50540600-50541000 | Enhancers | Brain Angular Gyrus | brain |
4 | chr2:50540600-50543200 | Enhancers | Brain Germinal Matrix | brain |