Variant report
| Variant | rs12723141 |
|---|---|
| Chromosome Location | chr1:158194023-158194024 |
| 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 |
rSNPs within LD-proxies of this variant (count:67)
| rs_ID | r2[population] |
|---|---|
| rs10489821 | 0.90[JPT][hapmap] |
| rs10489823 | 0.95[JPT][hapmap] |
| rs12040592 | 0.82[CHB][hapmap] |
| rs12409273 | 0.96[ASN][1000 genomes] |
| rs1570699 | 0.95[JPT][hapmap] |
| rs1633141 | 0.81[CHB][hapmap] |
| rs1633149 | 0.81[CHB][hapmap] |
| rs16840031 | 0.85[JPT][hapmap] |
| rs16840041 | 0.85[JPT][hapmap] |
| rs1748383 | 0.81[CHB][hapmap] |
| rs1748387 | 0.82[CHB][hapmap] |
| rs2269714 | 0.85[JPT][hapmap] |
| rs2269715 | 0.85[JPT][hapmap] |
| rs2518477 | 0.82[CHB][hapmap] |
| rs3087210 | 0.90[JPT][hapmap] |
| rs3087211 | 0.95[JPT][hapmap] |
| rs3087212 | 0.95[JPT][hapmap] |
| rs3087213 | 0.86[ASN][1000 genomes] |
| rs3118165 | 0.82[CHB][hapmap] |
| rs3136533 | 0.85[JPT][hapmap] |
| rs368130 | 0.81[CHB][hapmap] |
| rs372403 | 0.84[EUR][1000 genomes] |
| rs374686 | 1.00[CEU][hapmap];0.82[CHB][hapmap] |
| rs377795 | 0.82[CHB][hapmap] |
| rs383688 | 0.81[CHB][hapmap] |
| rs384414 | 0.81[CHB][hapmap] |
| rs389495 | 0.86[CHB][hapmap] |
| rs393304 | 0.81[CHB][hapmap] |
| rs401904 | 0.81[CHB][hapmap] |
| rs402699 | 0.85[CHB][hapmap] |
| rs406558 | 0.82[CHB][hapmap] |
| rs407309 | 0.82[CHB][hapmap] |
| rs407980 | 1.00[CEU][hapmap];0.81[CHB][hapmap] |
| rs410919 | 0.82[EUR][1000 genomes] |
| rs413557 | 0.82[CHB][hapmap] |
| rs429201 | 1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes] |
| rs434570 | 0.81[CHB][hapmap] |
| rs440862 | 0.81[CHB][hapmap] |
| rs448005 | 0.82[CHB][hapmap] |
| rs448556 | 0.82[CHB][hapmap] |
| rs449838 | 0.82[CHB][hapmap] |
| rs55819216 | 0.96[ASN][1000 genomes] |
| rs56379344 | 1.00[ASN][1000 genomes] |
| rs594364 | 0.82[CHB][hapmap] |
| rs607948 | 0.81[CHB][hapmap] |
| rs614164 | 0.82[CHB][hapmap] |
| rs620699 | 0.82[CHB][hapmap] |
| rs623215 | 0.86[CHB][hapmap] |
| rs6671299 | 0.90[ASN][1000 genomes] |
| rs6680015 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6684696 | 0.85[EUR][1000 genomes] |
| rs6703151 | 0.96[ASN][1000 genomes] |
| rs691077 | 1.00[CEU][hapmap] |
| rs691175 | 0.81[CHB][hapmap] |
| rs691314 | 1.00[CEU][hapmap];0.81[CHB][hapmap] |
| rs691551 | 0.82[CHB][hapmap] |
| rs7513330 | 0.96[ASN][1000 genomes] |
| rs7527480 | 0.89[ASN][1000 genomes] |
| rs7530662 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes] |
| rs7548147 | 0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs7550767 | 0.84[ASN][1000 genomes] |
| rs859003 | 0.95[JPT][hapmap] |
| rs859005 | 0.95[JPT][hapmap] |
| rs859008 | 0.95[JPT][hapmap] |
| rs859009 | 0.90[JPT][hapmap] |
| rs859010 | 0.90[JPT][hapmap] |
| rs859013 | 0.95[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv999542 | chr1:158015715-158368132 | Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv872479 | chr1:158118787-158484285 | Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv872480 | chr1:158153526-158450238 | Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 4 | esv13585 | chr1:158159222-158214160 | Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | esv1814455 | chr1:158160528-158200312 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv508626 | chr1:158161932-158242158 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 7 | esv1845799 | chr1:158175976-158230829 | Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 8 | esv1850818 | chr1:158192339-158200312 | Weak transcription ZNF genes & repeats | lncRNA | n/a | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
