Variant report
Variant | rs12487780 |
---|---|
Chromosome Location | chr3:85171633-85171634 |
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] |
---|---|
rs10490896 | 1.00[ASN][1000 genomes] |
rs10490897 | 1.00[ASN][1000 genomes] |
rs10865606 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12487214 | 0.93[ASN][1000 genomes] |
rs12487784 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12489229 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12491943 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12492245 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12494948 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12495761 | 1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12496274 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12497304 | 0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs17022387 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs2200463 | 1.00[ASN][1000 genomes] |
rs2200465 | 0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs34992129 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55959108 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs58443333 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs58554319 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs59147667 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs59322652 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs60399717 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6549013 | 1.00[ASN][1000 genomes] |
rs6770622 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6773806 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6774581 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6800224 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72903389 | 1.00[ASN][1000 genomes] |
rs72905237 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72905254 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72907123 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72907139 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73843272 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs73843277 | 0.84[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs73843282 | 0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs73843290 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7611119 | 0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7643802 | 0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7648199 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9821283 | 0.81[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1002058 | chr3:84757044-85389876 | Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
2 | esv3419993 | chr3:85030343-85663403 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA | 2 gene(s) | inside rSNPs | diseases |
3 | nsv492289 | chr3:85066623-85319147 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | esv2753915 | chr3:85071410-85624810 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA | 2 gene(s) | inside rSNPs | diseases |
5 | nsv877093 | chr3:85101501-85194054 | Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
6 | nsv590897 | chr3:85122624-85187085 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv877094 | chr3:85124697-85253981 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
8 | nsv590898 | chr3:85158733-85243777 | Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv877095 | chr3:85163167-85290434 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv877096 | chr3:85163167-85366517 | Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv460747 | chr3:85163167-85391672 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
12 | nsv590899 | chr3:85163167-85391672 | Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
13 | nsv1001124 | chr3:85167047-85309046 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:85168400-85177600 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
2 | chr3:85169200-85198600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
3 | chr3:85170800-85171800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
4 | chr3:85170800-85173000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
5 | chr3:85171600-85171800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |