Variant report
Variant | rs71350313 |
---|---|
Chromosome Location | chr2:153065678-153065679 |
allele | C/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] |
---|---|
rs12988834 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12992368 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13005388 | 0.91[AMR][1000 genomes] |
rs13013615 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13029138 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs13032991 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs16830794 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs16830826 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs34394215 | 0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs34398685 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs34544681 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs34635530 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs35093105 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35098681 | 0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs35331944 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs35475813 | 0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35916833 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4664544 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4664545 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4664557 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs71350312 | 0.91[AMR][1000 genomes] |
rs71417210 | 0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs71417212 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs71417213 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs71417214 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv875287 | chr2:152714680-153110573 | Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
2 | nsv875288 | chr2:152716628-153183646 | Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
3 | nsv875289 | chr2:152720030-153183646 | Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
4 | nsv1004308 | chr2:152980087-153154534 | Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
5 | nsv535985 | chr2:152980087-153154534 | Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
6 | esv3693434 | chr2:152998467-153208713 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:153058400-153079200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |