Variant report
Variant | rs359992 |
---|---|
Chromosome Location | chr12:85505386-85505387 |
allele | C/T |
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:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:85500330..85501960-chr12:85504219..85505982,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1031190 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11116694 | 1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap] |
rs12227853 | 1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap] |
rs12301980 | 1.00[CEU][hapmap];0.91[EUR][1000 genomes] |
rs12304556 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12810608 | 0.85[CHB][hapmap];0.84[JPT][hapmap] |
rs1404871 | 0.82[ASN][1000 genomes] |
rs1494500 | 0.91[EUR][1000 genomes] |
rs1494501 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1507209 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
rs1512732 | 0.85[CHB][hapmap];0.84[JPT][hapmap] |
rs1525548 | 0.91[EUR][1000 genomes] |
rs168613 | 0.95[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap] |
rs168615 | 0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1690835 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1852148 | 1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs1973816 | 0.91[EUR][1000 genomes] |
rs2056638 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs2660449 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2660454 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs2660455 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs2660459 | 0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs2708496 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2708498 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6539879 | 0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6539881 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7132596 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7133817 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7302312 | 0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7316900 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7486483 | 0.85[CHB][hapmap];0.84[JPT][hapmap] |
rs777035 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
rs7954110 | 0.91[EUR][1000 genomes] |
rs7962411 | 0.91[EUR][1000 genomes] |
rs7962577 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs796567 | 1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap] |
rs7974418 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];1.00[YRI][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv899377 | chr12:85157346-85629241 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
2 | nsv1040452 | chr12:85179586-85747907 | Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
3 | esv1792335 | chr12:85321249-86003609 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
4 | nsv899387 | chr12:85427691-85629241 | Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
5 | nsv455669 | chr12:85427691-85638089 | Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
6 | nsv559653 | chr12:85427691-85638089 | Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
7 | nsv899388 | chr12:85427691-85766847 | Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
8 | nsv455670 | chr12:85465932-85603531 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv559654 | chr12:85465932-85603531 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv1052676 | chr12:85466799-85556788 | Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv559655 | chr12:85492871-85512367 | Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
12 | nsv1040622 | chr12:85502226-85693132 | Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
13 | nsv541558 | chr12:85502226-85693132 | Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |