Variant report
Variant | rs12712708 |
---|---|
Chromosome Location | chr2:40963915-40963916 |
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 | chr2:40963352..40965233-chr2:40973523..40975129,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000233128 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1003616 | 0.81[ASN][1000 genomes] |
rs1003617 | 0.81[ASN][1000 genomes] |
rs10201594 | 0.94[AFR][1000 genomes];0.89[ASN][1000 genomes] |
rs10206098 | 0.89[ASN][1000 genomes] |
rs10209336 | 0.86[ASN][1000 genomes] |
rs10211572 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10445883 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10490262 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10490263 | 1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10490266 | 0.83[AFR][1000 genomes];0.89[EUR][1000 genomes] |
rs11124752 | 0.82[ASN][1000 genomes] |
rs11124757 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs11124759 | 0.84[ASN][1000 genomes] |
rs11680340 | 0.82[ASN][1000 genomes] |
rs11682329 | 0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11682367 | 0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11689342 | 0.85[JPT][hapmap] |
rs11691011 | 0.89[EUR][1000 genomes] |
rs11885458 | 0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11891229 | 0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11891709 | 0.84[AFR][1000 genomes];0.88[ASN][1000 genomes] |
rs12469493 | 0.82[ASN][1000 genomes] |
rs12615804 | 0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12712699 | 0.86[AFR][1000 genomes];0.81[ASN][1000 genomes] |
rs12712700 | 0.85[ASN][1000 genomes] |
rs12986905 | 0.93[AFR][1000 genomes];0.89[ASN][1000 genomes] |
rs13004542 | 0.86[ASN][1000 genomes] |
rs13016866 | 0.89[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13022083 | 0.96[AFR][1000 genomes];0.90[ASN][1000 genomes] |
rs13023675 | 0.81[ASN][1000 genomes] |
rs13023757 | 0.82[ASN][1000 genomes] |
rs13031824 | 0.82[ASN][1000 genomes] |
rs17026357 | 0.80[CHB][hapmap];0.80[JPT][hapmap] |
rs1861305 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1861306 | 0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2024436 | 0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2024437 | 0.81[CHB][hapmap] |
rs2075195 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2080341 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2098360 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2110786 | 0.86[EUR][1000 genomes] |
rs2216041 | 0.80[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap] |
rs2216044 | 0.86[ASN][1000 genomes] |
rs2888698 | 0.82[ASN][1000 genomes] |
rs36081778 | 0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs3851317 | 0.87[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes] |
rs4101520 | 0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4383382 | 0.81[ASN][1000 genomes] |
rs4528809 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs4952645 | 0.85[EUR][1000 genomes] |
rs6544350 | 0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6710038 | 0.89[ASN][1000 genomes] |
rs6713004 | 0.86[ASN][1000 genomes] |
rs67918843 | 0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs68168524 | 0.96[AFR][1000 genomes];0.88[ASN][1000 genomes] |
rs74177099 | 0.96[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7557413 | 0.85[ASN][1000 genomes] |
rs7562117 | 0.87[EUR][1000 genomes] |
rs7563703 | 0.81[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap] |
rs7569820 | 0.82[ASN][1000 genomes] |
rs7569825 | 0.82[ASN][1000 genomes] |
rs7589309 | 0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs767636 | 0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs918013 | 0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs9309057 | 0.80[ASN][1000 genomes] |
rs9309058 | 0.80[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs9677294 | 0.83[AFR][1000 genomes] |
rs9808252 | 0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv873911 | chr2:40423454-41161464 | ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
2 | nsv873917 | chr2:40710953-41015998 | Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
3 | nsv528865 | chr2:40805427-41218810 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv873925 | chr2:40835285-40966719 | Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
5 | nsv873926 | chr2:40835285-40986860 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
6 | nsv873927 | chr2:40835285-41034225 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
7 | nsv470455 | chr2:40835285-41059164 | Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
8 | nsv873928 | chr2:40835285-41075134 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv873929 | chr2:40835285-41180690 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
10 | nsv873931 | chr2:40869165-40966719 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
11 | nsv456441 | chr2:40882402-41064824 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
12 | nsv581514 | chr2:40882402-41064824 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
13 | nsv456452 | chr2:40890416-40989061 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
14 | nsv581515 | chr2:40890416-40989061 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
15 | esv2756918 | chr2:40930721-40966719 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
16 | esv2759045 | chr2:40930721-40966719 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
17 | nsv963911 | chr2:40950223-40971701 | Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:40949400-40973200 | Weak transcription | HSMMtube | muscle |
2 | chr2:40961000-40964000 | Enhancers | Muscle Satellite Cultured Cells | -- |
3 | chr2:40963000-40964200 | Weak transcription | Osteobl | bone |
4 | chr2:40963600-40966800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
5 | chr2:40963600-40968800 | Weak transcription | HSMM | muscle |
6 | chr2:40963800-40964600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |