Variant report
Variant | rs572803687 |
---|---|
Chromosome Location | chr14:22236525-22236526 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:161)
- CpG islands (count:61)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:22236519-22236569 | HPAEpiC | pulmonary alveolar: | n/a |
2 | chr14:22236519-22236569 | SK-N-SH | brain: | n/a |
3 | chr14:22236519-22236569 | SK-N-SH_RA | brain: | n/a |
4 | chr14:22236519-22236569 | NB4 | blood: | n/a |
5 | chr14:22236519-22236569 | HIPEpiC | eye: | n/a |
6 | chr14:22236519-22236569 | U87 | brain: | n/a |
7 | chr14:22236519-22236569 | NHBE | bronchial: | n/a |
8 | chr14:22236519-22236569 | Caco-2 | colon: | n/a |
9 | chr14:22236519-22236569 | SKMC | muscle: | n/a |
10 | chr14:22236519-22236569 | HCM | heart: | n/a |
11 | chr14:22236519-22236569 | HMEC | breast: | n/a |
12 | chr14:22236519-22236569 | ECC-1 | luminal epithelium: | n/a |
13 | chr14:22236519-22236569 | HRPEpiC | eye: | n/a |
14 | chr14:22236519-22236569 | NT2-D1 | testis: | n/a |
15 | chr14:22236519-22236569 | SK-N-MC | brain: | n/a |
16 | chr14:22236519-22236569 | PrEC | prostate: | n/a |
17 | chr14:22236519-22236569 | ovcar-3 | ovarian: | n/a |
18 | chr14:22236519-22236569 | SAEC | small airway: | n/a |
19 | chr14:22236519-22236569 | AG04450 | lung: | fetal |
20 | chr14:22236519-22236569 | PFSK-1 | brain: | n/a |
21 | chr14:22236519-22236569 | HCT-116 | colon: | n/a |
22 | chr14:22236519-22236569 | HAEpiC | amniotic membrane: | n/a |
23 | chr14:22236519-22236569 | MCF-7 | breast: | n/a |
24 | chr14:22236519-22236569 | HEEpiC | esophagus: | n/a |
25 | chr14:22236519-22236569 | HL-60 | blood: | n/a |
26 | chr14:22236519-22236569 | HCF | heart: | n/a |
27 | chr14:22236519-22236569 | A549 | lung: | n/a |
28 | chr14:22236519-22236569 | BE2_C | brain: | n/a |
29 | chr14:22236519-22236569 | GM06990 | blood: | n/a |
30 | chr14:22236519-22236569 | AoSMC | blood vessel: | n/a |
31 | chr14:22236519-22236569 | RPTEC | kidney: | n/a |
32 | chr14:22236519-22236569 | NHDF-neo | bronchial: | n/a |
33 | chr14:22236519-22236569 | AG04449 | skin: | fetal |
34 | chr14:22236519-22236569 | HCPEpiC | choroid plexus: | n/a |
35 | chr14:22236519-22236569 | HRCEpiC | kidney: | n/a |
36 | chr14:22236519-22236569 | T-47D | breast: | n/a |
37 | chr14:22236519-22236569 | IMR90 | lung: | fetal |
38 | chr14:22236519-22236569 | GM12878 | blood: | n/a |
39 | chr14:22236519-22236569 | PANC-1 | pancreas: | n/a |
40 | chr14:22236519-22236569 | GM12891 | blood: | n/a |
41 | chr14:22236519-22236569 | Hepatocyte | liver: | n/a |
42 | chr14:22236519-22236569 | CMK | blood: | n/a |
43 | chr14:22236519-22236569 | HRE | kidney: | n/a |
44 | chr14:22236519-22236569 | LNCaP | prostate: | n/a |
45 | chr14:22236519-22236569 | K562 | blood: | n/a |
46 | chr14:22236519-22236569 | GM19239 | blood: | n/a |
47 | chr14:22236519-22236569 | Hela-S3 | cervix: | n/a |
48 | chr14:22236519-22236569 | AG10803 | skin: | n/a |
49 | chr14:22236519-22236569 | MCF10A-Er-Src | breast: | n/a |
50 | chr14:22236519-22236569 | Jurkat | blood: | n/a |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:22236090..22236721-chr14:22293035..22293909,3 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
TRAV6 | TF binding region |
TRAV6 | CpG island |
ENSG00000211784 | Chromatin interaction |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1042309 | chr14:22042511-22866936 | Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 90 gene(s) | inside rSNPs | diseases |
2 | nsv456147 | chr14:22073473-22305071 | Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
3 | nsv563851 | chr14:22073473-22305071 | Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
4 | nsv563852 | chr14:22205447-22344160 | Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
5 | nsv528996 | chr14:22220569-22242293 | Enhancers Active TSS Weak transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
6 | nsv901480 | chr14:22221211-22255090 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
7 | nsv1037902 | chr14:22229021-22354103 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
8 | nsv832741 | chr14:22235781-22413637 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:22236200-22236800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
2 | chr14:22236200-22237000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
3 | chr14:22236200-22237400 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
4 | chr14:22236200-22237400 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr14:22236400-22236600 | Enhancers | Primary T helper naive cells fromperipheralblood | blood |
6 | chr14:22236400-22237000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |