Variant report
Variant | rs12408689 |
---|---|
Chromosome Location | chr1:210285308-210285309 |
allele | G/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 |
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No data |
rs_ID | r2[population] |
---|---|
rs10489346 | 0.90[AMR][1000 genomes] |
rs10779520 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs10779521 | 0.93[AMR][1000 genomes] |
rs10863796 | 1.00[EUR][1000 genomes] |
rs10863801 | 1.00[EUR][1000 genomes] |
rs10863806 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs10863809 | 0.93[AMR][1000 genomes] |
rs10863814 | 0.93[AMR][1000 genomes] |
rs11119361 | 1.00[EUR][1000 genomes] |
rs11119362 | 1.00[EUR][1000 genomes] |
rs11119371 | 0.90[CHB][hapmap];0.80[AMR][1000 genomes] |
rs11119372 | 0.82[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11119384 | 0.81[AMR][1000 genomes] |
rs11119388 | 0.81[AMR][1000 genomes] |
rs11119391 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11119394 | 0.84[AMR][1000 genomes] |
rs11119398 | 0.90[AMR][1000 genomes] |
rs11119401 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs11119403 | 0.93[AMR][1000 genomes] |
rs11119417 | 0.98[AMR][1000 genomes] |
rs11119433 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11119434 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11119442 | 0.82[AMR][1000 genomes] |
rs12057832 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12059828 | 0.93[AMR][1000 genomes] |
rs12061641 | 0.93[AMR][1000 genomes] |
rs12062530 | 0.84[AMR][1000 genomes] |
rs12064990 | 1.00[EUR][1000 genomes] |
rs12065575 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12066358 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12067807 | 1.00[EUR][1000 genomes] |
rs12069592 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12073617 | 0.93[AMR][1000 genomes] |
rs12078802 | 0.81[AMR][1000 genomes] |
rs12079812 | 1.00[EUR][1000 genomes] |
rs12079916 | 0.97[AMR][1000 genomes] |
rs12084199 | 0.81[AMR][1000 genomes] |
rs12085177 | 0.81[AMR][1000 genomes] |
rs12088422 | 0.93[AMR][1000 genomes] |
rs12089327 | 0.98[AMR][1000 genomes] |
rs12089449 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12092527 | 0.98[AMR][1000 genomes] |
rs12094309 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12094626 | 0.81[AMR][1000 genomes] |
rs12401574 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12403002 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12403098 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12405601 | 0.81[AMR][1000 genomes] |
rs12406136 | 0.92[AMR][1000 genomes] |
rs12407647 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12409047 | 0.98[AMR][1000 genomes] |
rs12409069 | 0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12409582 | 0.90[CHB][hapmap] |
rs12565072 | 0.84[AMR][1000 genomes] |
rs12566105 | 0.97[AMR][1000 genomes] |
rs12566314 | 0.84[AMR][1000 genomes] |
rs12569033 | 0.93[AMR][1000 genomes] |
rs1387932 | 0.93[AMR][1000 genomes] |
rs17015564 | 0.93[AMR][1000 genomes] |
rs17015565 | 0.93[AMR][1000 genomes] |
rs17015566 | 0.93[AMR][1000 genomes] |
rs17015667 | 0.97[AMR][1000 genomes] |
rs2130625 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs2130629 | 0.98[AMR][1000 genomes] |
rs2273047 | 1.00[EUR][1000 genomes] |
rs28417505 | 0.98[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs4844507 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs4844509 | 0.97[AMR][1000 genomes] |
rs4844924 | 1.00[EUR][1000 genomes] |
rs4844928 | 0.82[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs4844935 | 0.81[AMR][1000 genomes] |
rs4844936 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs4844937 | 0.84[AMR][1000 genomes] |
rs4844938 | 0.82[AMR][1000 genomes] |
rs4844939 | 0.84[AMR][1000 genomes] |
rs4844940 | 0.82[AMR][1000 genomes] |
rs4844941 | 0.90[AMR][1000 genomes] |
rs4844942 | 0.90[AMR][1000 genomes] |
rs4844943 | 0.93[AMR][1000 genomes] |
rs4844944 | 0.93[AMR][1000 genomes] |
rs4844945 | 0.93[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs4844946 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4844955 | 0.93[AMR][1000 genomes] |
rs72649937 | 0.86[AMR][1000 genomes] |
rs72649938 | 0.90[AMR][1000 genomes] |
rs72649940 | 0.90[AMR][1000 genomes] |
rs72649948 | 0.93[AMR][1000 genomes] |
rs72649949 | 0.93[AMR][1000 genomes] |
rs72649955 | 0.98[AMR][1000 genomes] |
rs72649956 | 0.93[AMR][1000 genomes] |
rs72649959 | 0.93[AMR][1000 genomes] |
rs72649960 | 0.93[AMR][1000 genomes] |
rs72649964 | 0.90[AMR][1000 genomes] |
rs72649967 | 0.87[AMR][1000 genomes] |
rs72649968 | 0.87[AMR][1000 genomes] |
rs7416285 | 1.00[EUR][1000 genomes] |
rs760768 | 0.84[AMR][1000 genomes] |
rs9787400 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1014034 | chr1:209759648-210501731 | Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
2 | nsv873140 | chr1:210068117-210335644 | Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
3 | esv1821002 | chr1:210108473-210291476 | ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
4 | nsv873141 | chr1:210228131-210296910 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
5 | nsv873142 | chr1:210233610-210291121 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
6 | nsv873143 | chr1:210233610-210296910 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
7 | nsv873144 | chr1:210252522-210347417 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
8 | nsv818800 | chr1:210258653-210304319 | Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | esv3452678 | chr1:210284385-210289804 | Weak transcription Enhancers ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
10 | esv3452679 | chr1:210284385-210289804 | Enhancers Weak transcription ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:210268400-210287400 | Weak transcription | Brain Germinal Matrix | brain |
2 | chr1:210274200-210290600 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr1:210276600-210285400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
4 | chr1:210280000-210290600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
5 | chr1:210283000-210298000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
6 | chr1:210285200-210285400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
7 | chr1:210285200-210285600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |