Variant report
Variant | rs745697 |
---|---|
Chromosome Location | chr1:224035842-224035843 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:33)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:33 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | EP300 | chr1:224035428-224036140 | K562 | blood: | n/a | n/a |
2 | POLR2A | chr1:224035377-224036008 | K562 | blood: | n/a | n/a |
3 | ARID3A | chr1:224035568-224036070 | K562 | blood: | n/a | n/a |
4 | TBP | chr1:224035398-224035923 | K562 | blood: | n/a | n/a |
5 | POLR2A | chr1:224035387-224035881 | K562 | blood: | n/a | n/a |
6 | POLR2A | chr1:224035542-224035849 | K562 | blood: | n/a | n/a |
7 | BHLHE40 | chr1:224035409-224035916 | K562 | blood: | n/a | n/a |
8 | CBX3 | chr1:224035376-224036055 | K562 | blood: | n/a | n/a |
9 | MAFK | chr1:224035559-224036018 | K562 | blood: | n/a | n/a |
10 | GATA1 | chr1:224035349-224036136 | PBDE | blood: | n/a | n/a |
11 | MAFF | chr1:224035384-224035927 | K562 | blood: | n/a | n/a |
12 | TBL1XR1 | chr1:224035573-224036056 | K562 | blood: | n/a | n/a |
13 | ATF1 | chr1:224035484-224036009 | K562 | blood: | n/a | n/a |
14 | HCFC1 | chr1:224035500-224035948 | K562 | blood: | n/a | n/a |
15 | TAL1 | chr1:224035444-224036057 | K562 | blood: | n/a | n/a |
16 | IRF1 | chr1:224035568-224035975 | K562 | blood: | n/a | n/a |
17 | RCOR1 | chr1:224035390-224036059 | K562 | blood: | n/a | n/a |
18 | IRF1 | chr1:224035393-224036122 | K562 | blood: | n/a | n/a |
19 | MAZ | chr1:224035537-224035991 | K562 | blood: | n/a | n/a |
20 | IRF1 | chr1:224035565-224036041 | K562 | blood: | n/a | n/a |
21 | JUND | chr1:224035390-224036063 | K562 | blood: | n/a | n/a |
22 | MYC | chr1:224035639-224036296 | K562 | blood: | n/a | n/a |
23 | TEAD4 | chr1:224035228-224036323 | K562 | blood: | n/a | n/a |
24 | GATA2 | chr1:224035384-224036083 | K562 | blood: | n/a | n/a |
25 | PML | chr1:224035498-224036061 | K562 | blood: | n/a | n/a |
26 | TEAD4 | chr1:224035411-224036052 | K562 | blood: | n/a | n/a |
27 | CCNT2 | chr1:224035563-224035999 | K562 | blood: | n/a | n/a |
28 | ZMIZ1 | chr1:224035699-224035950 | K562 | blood: | n/a | n/a |
29 | CUX1 | chr1:224035695-224036000 | K562 | blood: | n/a | n/a |
30 | RCOR1 | chr1:224035366-224036030 | K562 | blood: | n/a | n/a |
31 | MXI1 | chr1:224035665-224035932 | K562 | blood: | n/a | n/a |
32 | UBTF | chr1:224035378-224035878 | K562 | blood: | n/a | n/a |
33 | USF2 | chr1:224035604-224035917 | K562 | blood: | n/a | n/a |
No data |
(count:5 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:223897551..223903480-chr1:224031634..224036730,7 | K562 | blood: | |
2 | chr1:223945592..223947499-chr1:224033865..224036173,2 | MCF-7 | breast: | |
3 | chr1:223989156..223991507-chr1:224032637..224036039,3 | MCF-7 | breast: | |
4 | chr1:224031495..224036851-chr1:224037356..224045519,10 | MCF-7 | breast: | |
5 | chr1:224011114..224014049-chr1:224032766..224036091,4 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
TP53BP2 | TF binding region |
ENSG00000227621 | Chromatin interaction |
ENSG00000162909 | Chromatin interaction |
ENSG00000143514 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10799327 | 1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs10915882 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs10915892 | 0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs10915917 | 1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes] |
rs10915946 | 0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10915948 | 0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10915950 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10915956 | 0.91[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs1124943 | 0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs11801971 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs11802505 | 0.95[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes] |
rs11806886 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs12021759 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs12021785 | 0.95[EUR][1000 genomes] |
rs12024535 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs12026098 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs12026835 | 0.95[EUR][1000 genomes] |
rs12027539 | 0.95[CEU][hapmap];0.84[CHB][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes] |
rs12030094 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12038299 | 0.84[CEU][hapmap];0.87[EUR][1000 genomes] |
rs12040633 | 0.95[CEU][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes] |
rs12042503 | 0.89[EUR][1000 genomes] |
rs12045776 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12730520 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12731254 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs12745879 | 0.88[EUR][1000 genomes] |
rs12747926 | 0.86[EUR][1000 genomes] |
rs17559050 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs17599 | 0.83[EUR][1000 genomes] |
rs2014441 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs2126389 | 0.95[CEU][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs2169459 | 0.93[EUR][1000 genomes] |
rs34124959 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs35634773 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs3856161 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs4653644 | 1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs4653645 | 0.95[EUR][1000 genomes] |
rs4653775 | 0.84[CEU][hapmap];0.83[EUR][1000 genomes] |
rs56280097 | 0.91[EUR][1000 genomes] |
rs59866505 | 0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs61823593 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs61823594 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs61823595 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs61824002 | 0.86[EUR][1000 genomes] |
rs61824006 | 0.81[EUR][1000 genomes] |
rs6604731 | 0.81[GIH][hapmap] |
rs6658752 | 1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs6677956 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6678103 | 0.95[CEU][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes] |
rs6688246 | 0.95[EUR][1000 genomes] |
rs6693324 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6702843 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs723999 | 0.95[CEU][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs7516059 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs7519753 | 1.00[CEU][hapmap];0.95[EUR][1000 genomes] |
rs7533614 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7554109 | 0.95[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3361888 | chr1:223725597-224114846 | Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
2 | nsv1007380 | chr1:223834380-224042190 | Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
3 | nsv535310 | chr1:223834380-224042190 | ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
4 | esv34082 | chr1:223851018-224144509 | Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
5 | nsv1008800 | chr1:223904653-224061032 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
6 | esv2757772 | chr1:223935220-224363163 | Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
7 | esv2759000 | chr1:223935220-224363163 | Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:224034600-224038400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr1:224034800-224036000 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
3 | chr1:224034800-224039000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
4 | chr1:224034800-224041200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
5 | chr1:224035000-224041200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
6 | chr1:224035200-224036200 | Flanking Active TSS | K562 | blood |
7 | chr1:224035600-224037000 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |