Variant report
Variant | rs12607922 |
---|---|
Chromosome Location | chr18:12090696-12090697 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:3 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | JUN | chr18:12090571-12090882 | HepG2 | liver: | n/a | chr18:12090767-12090780 chr18:12090741-12090754 |
2 | JUND | chr18:12090576-12090916 | HepG2 | liver: | n/a | n/a |
3 | CEBPB | chr18:12090640-12090795 | HepG2 | liver: | n/a | n/a |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr18:12088519..12091150-chr18:12096385..12097943,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ANKRD62 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10853218 | 0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10853220 | 0.84[EUR][1000 genomes] |
rs10853221 | 0.84[EUR][1000 genomes] |
rs11080540 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11659489 | 0.91[CHB][hapmap];0.91[JPT][hapmap] |
rs11662286 | 0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11662304 | 0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs11663207 | 0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs11663425 | 0.86[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs11664969 | 0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs11876665 | 0.83[AFR][1000 genomes] |
rs12455916 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12605611 | 0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12606018 | 0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap] |
rs12606540 | 0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12958791 | 0.92[AFR][1000 genomes] |
rs13381564 | 0.93[AFR][1000 genomes] |
rs16972943 | 0.90[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap] |
rs1815925 | 0.93[AFR][1000 genomes] |
rs1986750 | 0.89[MKK][hapmap];0.83[YRI][hapmap] |
rs1986751 | 0.89[MKK][hapmap];0.80[YRI][hapmap] |
rs28395459 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs34887196 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs34935192 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs35578149 | 0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4419121 | 0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4468696 | 0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs4468697 | 0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs4519391 | 0.89[MKK][hapmap];0.83[YRI][hapmap] |
rs4528646 | 0.83[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4636985 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs55738573 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs56032100 | 0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs56153833 | 0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs56250185 | 0.84[EUR][1000 genomes] |
rs56966010 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs57681673 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs57902247 | 0.84[EUR][1000 genomes] |
rs60755330 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6505717 | 0.89[MKK][hapmap];0.83[YRI][hapmap] |
rs7237125 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7237465 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7237955 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7242225 | 1.00[YRI][hapmap];0.88[AFR][1000 genomes] |
rs8095234 | 0.83[YRI][hapmap] |
rs8095647 | 0.83[YRI][hapmap] |
rs9303757 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9652909 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs9652929 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9946641 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9948384 | 0.89[MKK][hapmap];0.83[YRI][hapmap] |
rs9951477 | 0.82[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs9951929 | 0.89[MKK][hapmap];0.83[YRI][hapmap] |
rs9966458 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1055453 | chr18:11776790-12110135 | Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 66 gene(s) | inside rSNPs | diseases |
2 | nsv543654 | chr18:11776790-12110135 | Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 66 gene(s) | inside rSNPs | diseases |
3 | nsv909384 | chr18:11907374-12101109 | Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 42 gene(s) | inside rSNPs | diseases |
4 | nsv909386 | chr18:11938102-12095950 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 34 gene(s) | inside rSNPs | diseases |
5 | nsv909388 | chr18:11987988-12141372 | Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
6 | nsv909389 | chr18:11987988-12141625 | Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
7 | nsv909390 | chr18:11987988-12155371 | Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
8 | nsv909391 | chr18:11989416-12146408 | Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
9 | nsv909392 | chr18:11989416-12146698 | Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
10 | nsv909393 | chr18:12001258-12155371 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
11 | nsv909394 | chr18:12017343-12141372 | Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
12 | nsv1063125 | chr18:12046892-12918251 | Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 130 gene(s) | inside rSNPs | diseases |
13 | nsv828181 | chr18:12065246-12091392 | Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
14 | nsv961151 | chr18:12082154-12099861 | Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
15 | nsv909398 | chr18:12083552-12121294 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
16 | nsv909399 | chr18:12083552-12141372 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
17 | esv3405647 | chr18:12085552-12090750 | Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:12077000-12095000 | Weak transcription | Right Atrium | heart |
2 | chr18:12089000-12093800 | Weak transcription | Spleen | Spleen |
3 | chr18:12089200-12091800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
4 | chr18:12089400-12091200 | Weak transcription | Esophagus | oesophagus |
5 | chr18:12089400-12091400 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
6 | chr18:12089400-12092600 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
7 | chr18:12089600-12091400 | Weak transcription | Pancreas | Pancrea |
8 | chr18:12089600-12091800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |