Variant report
Variant | rs575326705 |
---|---|
Chromosome Location | chr2:11867842-11867843 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:61)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | E2F4 | chr2:11867759-11867931 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:11867801-11867851 | LNCaP | prostate: | n/a |
2 | chr2:11867801-11867851 | HCM | heart: | n/a |
3 | chr2:11867801-11867851 | NHBE | bronchial: | n/a |
4 | chr2:11867801-11867851 | RPTEC | kidney: | n/a |
5 | chr2:11867801-11867851 | GM19239 | blood: | n/a |
6 | chr2:11867801-11867851 | HEK293 | kidney: | embryo |
7 | chr2:11867801-11867851 | AG09319 | gingival: | n/a |
8 | chr2:11867801-11867851 | HRPEpiC | eye: | n/a |
9 | chr2:11867801-11867851 | AG10803 | skin: | n/a |
10 | chr2:11867801-11867851 | GM12891 | blood: | n/a |
11 | chr2:11867801-11867851 | PANC-1 | pancreas: | n/a |
12 | chr2:11867801-11867851 | H1-hESC | embryonic stem cell: | embryo |
13 | chr2:11867801-11867851 | BJ | skin: | n/a |
14 | chr2:11867801-11867851 | HCT-116 | colon: | n/a |
15 | chr2:11867801-11867851 | Jurkat | blood: | n/a |
16 | chr2:11867801-11867851 | AG04450 | lung: | fetal |
17 | chr2:11867801-11867851 | SK-N-SH_RA | brain: | n/a |
18 | chr2:11867801-11867851 | GM12878 | blood: | n/a |
19 | chr2:11867801-11867851 | MCF10A-Er-Src | breast: | n/a |
20 | chr2:11867801-11867851 | BE2_C | brain: | n/a |
21 | chr2:11867801-11867851 | HUVEC | blood vessel: | n/a |
22 | chr2:11867801-11867851 | U87 | brain: | n/a |
23 | chr2:11867801-11867851 | ovcar-3 | ovarian: | n/a |
24 | chr2:11867801-11867851 | HCPEpiC | choroid plexus: | n/a |
25 | chr2:11867801-11867851 | HRCEpiC | kidney: | n/a |
26 | chr2:11867801-11867851 | HNPCEpiC | eye: | n/a |
27 | chr2:11867801-11867851 | NT2-D1 | testis: | n/a |
28 | chr2:11867801-11867851 | Hepatocyte | liver: | n/a |
29 | chr2:11867801-11867851 | PrEC | prostate: | n/a |
30 | chr2:11867801-11867851 | HAEpiC | amniotic membrane: | n/a |
31 | chr2:11867801-11867851 | K562 | blood: | n/a |
32 | chr2:11867801-11867851 | NB4 | blood: | n/a |
33 | chr2:11867801-11867851 | SK-N-MC | brain: | n/a |
34 | chr2:11867801-11867851 | SKMC | muscle: | n/a |
35 | chr2:11867801-11867851 | GM06990 | blood: | n/a |
36 | chr2:11867801-11867851 | T-47D | breast: | n/a |
37 | chr2:11867801-11867851 | HL-60 | blood: | n/a |
38 | chr2:11867801-11867851 | AoSMC | blood vessel: | n/a |
39 | chr2:11867801-11867851 | HPAEpiC | pulmonary alveolar: | n/a |
40 | chr2:11867801-11867851 | NH-A | brain: | n/a |
41 | chr2:11867801-11867851 | HIPEpiC | eye: | n/a |
42 | chr2:11867801-11867851 | A549 | lung: | n/a |
43 | chr2:11867801-11867851 | HCF | heart: | n/a |
44 | chr2:11867801-11867851 | Hela-S3 | cervix: | n/a |
45 | chr2:11867801-11867851 | HMEC | breast: | n/a |
46 | chr2:11867801-11867851 | GM12892 | blood: | n/a |
47 | chr2:11867801-11867851 | CMK | blood: | n/a |
48 | chr2:11867801-11867851 | Caco-2 | colon: | n/a |
49 | chr2:11867801-11867851 | SAEC | small airway: | n/a |
50 | chr2:11867801-11867851 | SK-N-SH | brain: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:11867421..11869594-chr2:11885775..11887572,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000203643 | TF binding region |
ENSG00000203643 | CpG island |
ENSG00000134324 | Chromatin interaction |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1010506 | chr2:11430965-12057286 | Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 88 gene(s) | inside rSNPs | diseases |
2 | nsv535585 | chr2:11430965-12057286 | Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 88 gene(s) | inside rSNPs | diseases |
3 | nsv1003899 | chr2:11789374-12248081 | Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 26 gene(s) | inside rSNPs | diseases |
4 | nsv580973 | chr2:11864946-11898931 | Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
5 | nsv580974 | chr2:11867841-11898931 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
No data |