Variant report
Variant | rs547088387 |
---|---|
Chromosome Location | chr5:52497812-52497813 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:125)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr5:52497700-52497850 | K562 | blood: | n/a | n/a |
2 | CTCF | chr5:52497680-52497830 | GM12868 | blood: | n/a | n/a |
3 | RAD21 | chr5:52497674-52497849 | K562 | blood: | n/a | n/a |
4 | CTCF | chr5:52497700-52497850 | GM12872 | blood: | n/a | n/a |
5 | CTCF | chr5:52497700-52497850 | GM12870 | blood: | n/a | n/a |
6 | RAD21 | chr5:52497542-52498016 | HCT-116 | colon: | n/a | n/a |
7 | CTCF | chr5:52497670-52497837 | GM12892 | blood: | n/a | n/a |
8 | CTCF | chr5:52497666-52497824 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | CTCF | chr5:52497780-52497930 | NB4 | blood: | n/a | n/a |
10 | CTCF | chr5:52497680-52497842 | GM19240 | blood: | n/a | n/a |
11 | CTCF | chr5:52497693-52497815 | MCF-7 | breast: | n/a | n/a |
12 | CTCF | chr5:52497680-52497910 | HAc | cerebellar: | n/a | n/a |
13 | IRF1 | chr5:52497626-52497945 | K562 | blood: | n/a | n/a |
14 | CTCF | chr5:52497716-52497833 | LNCaP | prostate: | n/a | n/a |
15 | CTCF | chr5:52497700-52497850 | HL-60 | blood: | n/a | n/a |
16 | RAD21 | chr5:52497677-52497829 | GM12878 | blood: | n/a | n/a |
17 | CTCF | chr5:52497622-52497863 | HepG2 | liver: | n/a | n/a |
18 | CTCF | chr5:52497572-52497910 | K562 | blood: | n/a | n/a |
19 | RAD21 | chr5:52497578-52497867 | H1-hESC | embryonic stem cell: | n/a | n/a |
20 | CTCF | chr5:52497680-52497830 | HepG2 | liver: | n/a | n/a |
21 | CTCF | chr5:52497680-52497830 | BE2_C | brain: | n/a | n/a |
22 | CTCF | chr5:52497511-52497903 | A549 | lung: | n/a | n/a |
23 | CTCF | chr5:52497680-52497830 | HFF-Myc | foreskin: | n/a | n/a |
24 | IRF1 | chr5:52497629-52497952 | K562 | blood: | n/a | n/a |
25 | CTCF | chr5:52497680-52497830 | HEK293 | kidney: | n/a | n/a |
26 | CTCF | chr5:52497720-52497870 | GM12878 | blood: | n/a | n/a |
27 | CTCF | chr5:52497700-52497850 | GM12868 | blood: | n/a | n/a |
28 | CTCF | chr5:52497680-52497830 | K562 | blood: | n/a | n/a |
29 | RAD21 | chr5:52497689-52497843 | GM12878 | blood: | n/a | n/a |
30 | RCOR1 | chr5:52497501-52497936 | K562 | blood: | n/a | n/a |
31 | CTCF | chr5:52497688-52497853 | Hela-S3 | cervix: | n/a | n/a |
32 | CTCF | chr5:52497678-52497825 | Fibrobl | skin: | n/a | n/a |
33 | CTCF | chr5:52497666-52497859 | LNCaP | prostate: | n/a | n/a |
34 | CTCF | chr5:52497680-52497830 | HBMEC | blood vessel: | n/a | n/a |
35 | CTCF | chr5:52497720-52497870 | AoAF | blood vessel: | n/a | n/a |
36 | CTCF | chr5:52497565-52498052 | K562 | blood: | n/a | n/a |
37 | CTCF | chr5:52497677-52497827 | ProgFib | skin: | n/a | n/a |
38 | CTCF | chr5:52497691-52497825 | MCF-7 | breast: | n/a | n/a |
39 | POLR2A | chr5:52497695-52497816 | HUVEC | blood vessel: | n/a | n/a |
40 | RAD21 | chr5:52497597-52497948 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | CTCF | chr5:52497614-52497872 | A549 | lung: | n/a | n/a |
42 | CTCF | chr5:52497720-52497870 | WERI-Rb-1 | eye: | n/a | n/a |
43 | CTCF | chr5:52497740-52497890 | GM12874 | blood: | n/a | n/a |
44 | TBL1XR1 | chr5:52497740-52497962 | K562 | blood: | n/a | n/a |
45 | CTCF | chr5:52497660-52497873 | GM12878 | blood: | n/a | n/a |
46 | CTCF | chr5:52497740-52497890 | HUVEC | blood vessel: | n/a | n/a |
47 | YY1 | chr5:52497589-52497866 | H1-hESC | embryonic stem cell: | n/a | chr5:52497717-52497729 |
48 | CTCF | chr5:52497740-52497890 | GM12873 | blood: | n/a | n/a |
49 | CTCF | chr5:52497722-52497823 | Kidney_OC | kidney: | n/a | n/a |
50 | CTCF | chr5:52497681-52497844 | MCF-7 | breast: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:52419531..52420160-chr5:52497344..52497892,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000213940 | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv949005 | chr5:52188028-52808229 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
2 | esv2752745 | chr5:52422063-53343529 | Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
3 | nsv830297 | chr5:52492494-52707758 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
4 | nsv515913 | chr5:52492677-52545841 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv522454 | chr5:52492677-52571758 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv968913 | chr5:52495296-52509384 | Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv598173 | chr5:52495682-52499899 | Enhancers Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
8 | esv20413 | chr5:52497292-52500173 | Weak transcription | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:52489000-52507000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr5:52489600-52507800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |