Variant report
Variant | rs13004114 |
---|---|
Chromosome Location | chr2:189798540-189798541 |
allele | A/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 |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1155803 | 0.96[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs13009963 | 0.97[ASN][1000 genomes] |
rs13010226 | 0.97[ASN][1000 genomes] |
rs13010373 | 0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs13013611 | 0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1400230 | 0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1516444 | 0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1516445 | 0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1516456 | 0.82[ASN][1000 genomes] |
rs1543150 | 0.97[ASN][1000 genomes] |
rs16830870 | 0.97[ASN][1000 genomes] |
rs1829137 | 0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1850275 | 0.81[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs1850277 | 0.88[EUR][1000 genomes] |
rs1878203 | 0.93[ASN][1000 genomes] |
rs1878205 | 0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1914032 | 0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1996312 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2037188 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2056157 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2067991 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs2459409 | 0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2708203 | 0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4666766 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4666767 | 0.96[ASN][1000 genomes] |
rs6434301 | 0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6712676 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs6734088 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7567967 | 0.93[ASN][1000 genomes] |
rs7575426 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7607018 | 0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1003974 | chr2:189331760-189827814 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
2 | nsv834490 | chr2:189703550-189840963 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv875608 | chr2:189753823-189837995 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
4 | nsv1008398 | chr2:189794993-189831353 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | esv1845445 | chr2:189796272-189823392 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | esv1849974 | chr2:189796272-189837995 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
7 | nsv584056 | chr2:189796272-189841052 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
8 | nsv459992 | chr2:189796272-189855943 | Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNA | 4 gene(s) | inside rSNPs | diseases |
9 | nsv584057 | chr2:189796272-189855943 | Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNA | 4 gene(s) | inside rSNPs | diseases |
10 | nsv875609 | chr2:189796272-189862097 | Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNAmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
11 | nsv875610 | chr2:189796272-189904674 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNAmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:189794400-189802000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
2 | chr2:189796400-189801600 | Weak transcription | Osteobl | bone |
3 | chr2:189796600-189801400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr2:189796600-189801600 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
5 | chr2:189796600-189802000 | Weak transcription | NHDF-Ad | bronchial |