Variant report
Variant | rs12035708 |
---|---|
Chromosome Location | chr1:228743499-228743500 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:29)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:29 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | RPC155 | chr1:228743308-228743705 | K562 | blood: | n/a | n/a |
2 | GTF3C2 | chr1:228743328-228743740 | K562 | blood: | n/a | n/a |
3 | RUNX3 | chr1:228743435-228743680 | GM12878 | blood: | n/a | n/a |
4 | EP300 | chr1:228743341-228743647 | GM12878 | blood: | n/a | chr1:228743408-228743424 |
5 | ZNF384 | chr1:228743427-228743687 | K562 | blood: | n/a | n/a |
6 | ZNF143 | chr1:228743398-228743598 | K562 | blood: | n/a | n/a |
7 | TBP | chr1:228743364-228743626 | GM12878 | blood: | n/a | n/a |
8 | RAD21 | chr1:228743342-228743584 | HepG2 | liver: | n/a | n/a |
9 | RFX5 | chr1:228743468-228743554 | HepG2 | liver: | n/a | n/a |
10 | MAX | chr1:228743454-228743534 | NB4 | blood: | n/a | n/a |
11 | CREB1 | chr1:228743297-228743744 | HepG2 | liver: | n/a | n/a |
12 | TBP | chr1:228743333-228743643 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | TBP | chr1:228743283-228743681 | K562 | blood: | n/a | n/a |
14 | YY1 | chr1:228743313-228743696 | HepG2 | liver: | n/a | chr1:228743407-228743416 |
15 | CTCF | chr1:228743430-228743518 | MCF-7 | breast: | n/a | n/a |
16 | TBP | chr1:228743423-228743633 | Hela-S3 | cervix: | n/a | n/a |
17 | RCOR1 | chr1:228743467-228743624 | HepG2 | liver: | n/a | n/a |
18 | ARID3A | chr1:228743385-228743565 | HepG2 | liver: | n/a | n/a |
19 | TEAD4 | chr1:228743250-228743666 | HepG2 | liver: | n/a | n/a |
20 | USF1 | chr1:228743388-228743579 | HepG2 | liver: | n/a | n/a |
21 | TBP | chr1:228743286-228743703 | HepG2 | liver: | n/a | n/a |
22 | MBD4 | chr1:228743360-228743629 | HepG2 | liver: | n/a | n/a |
23 | CTCF | chr1:228743450-228743522 | MCF-7 | breast: | n/a | n/a |
24 | RPC155 | chr1:228743347-228743786 | Hela-S3 | cervix: | n/a | n/a |
25 | ATF3 | chr1:228743369-228743629 | K562 | blood: | n/a | n/a |
26 | GTF3C2 | chr1:228743389-228743767 | Hela-S3 | cervix: | n/a | n/a |
27 | CTCF | chr1:228743422-228743543 | HepG2 | liver: | n/a | n/a |
28 | ZBTB7A | chr1:228743395-228743608 | HepG2 | liver: | n/a | n/a |
29 | MAZ | chr1:228743404-228743647 | HepG2 | liver: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
DUSP5P1 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10753451 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10753452 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10916338 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12028431 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12140890 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12407568 | 0.91[ASN][1000 genomes] |
rs1925714 | 0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1925717 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1925721 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1925722 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs2182200 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs35598069 | 0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs35724040 | 0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs4147255 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs4147256 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4412590 | 0.85[EUR][1000 genomes] |
rs4653558 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4653977 | 0.89[ASN][1000 genomes] |
rs4653979 | 0.91[ASN][1000 genomes] |
rs6426505 | 0.81[EUR][1000 genomes] |
rs6426507 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6670856 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs728964 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7415895 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs744668 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7533560 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv32853 | chr1:227880116-228806209 | Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 187 gene(s) | inside rSNPs | diseases |
2 | nsv1013500 | chr1:228459134-228849601 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 98 gene(s) | inside rSNPs | diseases |
3 | esv15299 | chr1:228716554-228744099 | Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh | TF binding regionCpG island | 2 gene(s) | inside rSNPs | diseases |
4 | nsv827075 | chr1:228716554-228783674 | Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 28 gene(s) | inside rSNPs | diseases |
5 | nsv945355 | chr1:228716611-228784016 | Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 29 gene(s) | inside rSNPs | diseases |
6 | nsv511124 | chr1:228742457-228780671 | Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG island | 18 gene(s) | inside rSNPs | diseases |
7 | esv19715 | chr1:228742638-228783674 | Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 28 gene(s) | inside rSNPs | diseases |
8 | esv3425415 | chr1:228742829-228783527 | Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
9 | nsv827086 | chr1:228742962-228783035 | Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | inside rSNPs | diseases |
10 | nsv820567 | chr1:228742962-228783403 | Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
11 | nsv827097 | chr1:228742962-228783403 | Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
12 | esv3331974 | chr1:228743029-228783527 | Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
13 | esv3342484 | chr1:228743029-228783527 | Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
14 | esv3382956 | chr1:228743029-228783527 | Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
15 | esv3445359 | chr1:228743029-228783527 | Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
16 | esv3450984 | chr1:228743029-228783527 | Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 26 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:228743000-228743600 | Bivalent/Poised TSS | iPS-18 Cell Line | embryonic stem cell |
2 | chr1:228743000-228744000 | Bivalent Enhancer | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr1:228743200-228743600 | Active TSS | HepG2 | liver |
4 | chr1:228743200-228744000 | Bivalent/Poised TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
5 | chr1:228743400-228743800 | ZNF genes & repeats | Foreskin Keratinocyte Primary Cells skin03 | Skin |