Variant report
| Variant | rs12145194 |
|---|---|
| Chromosome Location | chr1:196057625-196057626 |
| allele | A/G |
| 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 | chr1:196053015..196055088-chr1:196056240..196058402,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:38)
| rs_ID | r2[population] |
|---|---|
| rs10922020 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10922021 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10922025 | 0.95[ASN][1000 genomes] |
| rs11579497 | 0.96[ASN][1000 genomes] |
| rs11580248 | 0.87[ASN][1000 genomes] |
| rs11584379 | 0.93[ASN][1000 genomes] |
| rs11585296 | 0.95[ASN][1000 genomes] |
| rs12026982 | 0.93[ASN][1000 genomes] |
| rs12723371 | 0.86[ASN][1000 genomes] |
| rs12731126 | 0.84[ASN][1000 genomes] |
| rs12731271 | 0.87[ASN][1000 genomes] |
| rs12738563 | 0.91[ASN][1000 genomes] |
| rs12740444 | 0.94[YRI][hapmap] |
| rs12745430 | 0.87[ASN][1000 genomes] |
| rs12749184 | 0.92[ASN][1000 genomes] |
| rs12751055 | 0.91[ASN][1000 genomes] |
| rs12751292 | 0.89[YRI][hapmap] |
| rs12753234 | 0.88[ASN][1000 genomes] |
| rs12756840 | 0.83[ASN][1000 genomes] |
| rs13376480 | 0.92[ASN][1000 genomes] |
| rs16839501 | 0.92[ASN][1000 genomes] |
| rs16839516 | 0.91[ASN][1000 genomes] |
| rs33964123 | 0.87[ASN][1000 genomes] |
| rs34314876 | 0.87[ASN][1000 genomes] |
| rs34770726 | 0.92[ASN][1000 genomes] |
| rs6678032 | 0.95[ASN][1000 genomes] |
| rs6696438 | 0.93[ASN][1000 genomes] |
| rs67657970 | 0.93[ASN][1000 genomes] |
| rs67853446 | 0.92[ASN][1000 genomes] |
| rs68074259 | 0.92[ASN][1000 genomes] |
| rs72746186 | 0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72746187 | 0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72746189 | 0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72746191 | 0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72746193 | 0.91[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72746199 | 0.93[ASN][1000 genomes] |
| rs72748417 | 0.92[ASN][1000 genomes] |
| rs7535849 | 0.92[ASN][1000 genomes] |
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 | esv2757765 | chr1:195803764-196119454 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | esv2758989 | chr1:195803764-196119454 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv872948 | chr1:195872295-196236425 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv470769 | chr1:195901676-196187665 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv467339 | chr1:195912579-196119310 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv548738 | chr1:195912579-196119310 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 7 | nsv534209 | chr1:196011881-196208885 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 8 | nsv872951 | chr1:196027872-196166278 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:196057600-196058200 | Enhancers | NHDF-Ad | bronchial |
