Variant report
Variant | esv3380350 |
---|---|
Chromosome Location | chr7:57485435-57487983 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:122)
- CpG islands (count:183)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:57486704-57486754 | NHDF-neo | bronchial: | n/a |
2 | chr7:57485543-57485593 | NHBE | bronchial: | n/a |
3 | chr7:57486704-57486754 | HepG2 | liver: | n/a |
4 | chr7:57487091-57487141 | Hepatocyte | liver: | n/a |
5 | chr7:57485543-57485593 | LNCaP | prostate: | n/a |
6 | chr7:57486704-57486754 | HRCEpiC | kidney: | n/a |
7 | chr7:57485543-57485593 | PrEC | prostate: | n/a |
8 | chr7:57486704-57486754 | GM06990 | blood: | n/a |
9 | chr7:57487091-57487141 | BE2_C | brain: | n/a |
10 | chr7:57486704-57486754 | HIPEpiC | eye: | n/a |
11 | chr7:57486704-57486754 | LNCaP | prostate: | n/a |
12 | chr7:57485543-57485593 | H1-hESC | embryonic stem cell: | embryo |
13 | chr7:57485543-57485593 | PANC-1 | pancreas: | n/a |
14 | chr7:57485543-57485593 | GM06990 | blood: | n/a |
15 | chr7:57485543-57485593 | AG10803 | skin: | n/a |
16 | chr7:57486704-57486754 | K562 | blood: | n/a |
17 | chr7:57487091-57487141 | NHDF-neo | bronchial: | n/a |
18 | chr7:57485543-57485593 | IMR90 | lung: | fetal |
19 | chr7:57486704-57486754 | HEK293 | kidney: | embryo |
20 | chr7:57486704-57486754 | ECC-1 | luminal epithelium: | n/a |
21 | chr7:57486704-57486754 | AG10803 | skin: | n/a |
22 | chr7:57485543-57485593 | AG09319 | gingival: | n/a |
23 | chr7:57485543-57485593 | ProgFib | skin: | n/a |
24 | chr7:57485543-57485593 | NB4 | blood: | n/a |
25 | chr7:57485543-57485593 | AG09309 | skin: | n/a |
26 | chr7:57487091-57487141 | HRE | kidney: | n/a |
27 | chr7:57485543-57485593 | AoSMC | blood vessel: | n/a |
28 | chr7:57486704-57486754 | NT2-D1 | testis: | n/a |
29 | chr7:57487091-57487141 | NT2-D1 | testis: | n/a |
30 | chr7:57487091-57487141 | AG10803 | skin: | n/a |
31 | chr7:57485543-57485593 | T-47D | breast: | n/a |
32 | chr7:57486704-57486754 | NB4 | blood: | n/a |
33 | chr7:57486704-57486754 | AG09319 | gingival: | n/a |
34 | chr7:57487091-57487141 | HNPCEpiC | eye: | n/a |
35 | chr7:57485543-57485593 | HL-60 | blood: | n/a |
36 | chr7:57485543-57485593 | HMEC | breast: | n/a |
37 | chr7:57486704-57486754 | HMEC | breast: | n/a |
38 | chr7:57487091-57487141 | PFSK-1 | brain: | n/a |
39 | chr7:57486704-57486754 | GM12878 | blood: | n/a |
40 | chr7:57485543-57485593 | HRCEpiC | kidney: | n/a |
41 | chr7:57487091-57487141 | GM12878 | blood: | n/a |
42 | chr7:57487091-57487141 | ovcar-3 | ovarian: | n/a |
43 | chr7:57485543-57485593 | Hela-S3 | cervix: | n/a |
44 | chr7:57485543-57485593 | HCPEpiC | choroid plexus: | n/a |
45 | chr7:57485543-57485593 | U87 | brain: | n/a |
46 | chr7:57485543-57485593 | GM12892 | blood: | n/a |
47 | chr7:57487091-57487141 | SAEC | small airway: | n/a |
48 | chr7:57487091-57487141 | H1-hESC | embryonic stem cell: | embryo |
49 | chr7:57485543-57485593 | ovcar-3 | ovarian: | n/a |
50 | chr7:57485543-57485593 | HRE | kidney: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
VN1R28P | TF binding region |
VN1R28P | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs573384156 | chr7:57485449-57485450 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs539163258 | chr7:57485450-57485451 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs117329210 | chr7:57485454-57485455 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs559223601 | chr7:57485479-57485480 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs532942107 | chr7:57485520-57485521 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs10239404 | chr7:57485580-57485581 | ZNF genes & repeats Weak transcription | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs572970757 | chr7:57485582-57485583 | ZNF genes & repeats Weak transcription | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs563229121 | chr7:57485586-57485587 | ZNF genes & repeats Weak transcription | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs541980423 | chr7:57485589-57485590 | ZNF genes & repeats Weak transcription | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs530733263 | chr7:57485598-57485599 | ZNF genes & repeats Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs369900746 | chr7:57485634-57485635 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs7809672 | chr7:57485650-57485651 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs34222491 | chr7:57485663-57485664 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs76845546 | chr7:57485673-57485674 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs575189920 | chr7:57485676-57485677 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs547866033 | chr7:57485709-57485710 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs544094007 | chr7:57485724-57485725 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs539826362 | chr7:57485727-57485728 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs141683353 | chr7:57485759-57485760 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs114021053 | chr7:57485769-57485770 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs537745965 | chr7:57485781-57485782 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs189231383 | chr7:57485784-57485785 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs12668236 | chr7:57485795-57485796 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs541313260 | chr7:57485829-57485830 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs34722558 | chr7:57485839-57485840 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs191955877 | chr7:57485851-57485852 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs368853683 | chr7:57485903-57485904 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs577701559 | chr7:57485910-57485911 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs540823492 | chr7:57485916-57485917 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs544573440 | chr7:57485983-57485984 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
31 | rs372930411 | chr7:57485992-57485993 | ZNF genes & repeats Weak transcription Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
32 | rs142909867 | chr7:57486018-57486019 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
33 | rs369781808 | chr7:57486020-57486021 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
34 | rs562945705 | chr7:57486087-57486088 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
35 | rs183869560 | chr7:57486155-57486156 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs542501891 | chr7:57486171-57486172 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs79030223 | chr7:57486190-57486191 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs186690862 | chr7:57486192-57486193 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs77408309 | chr7:57486253-57486254 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs540376999 | chr7:57486254-57486255 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs566129664 | chr7:57486260-57486261 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs560598255 | chr7:57486277-57486278 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs551755020 | chr7:57486286-57486287 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs553071350 | chr7:57486316-57486317 | ZNF genes & repeats Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs79278734 | chr7:57486318-57486319 | ZNF genes & repeats Bivalent/Poised TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs556023510 | chr7:57486324-57486325 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs567895230 | chr7:57486333-57486334 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs529484175 | chr7:57486361-57486362 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs79808431 | chr7:57486387-57486388 | ZNF genes & repeats Bivalent/Poised TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs79157776 | chr7:57486449-57486450 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Glioma | 21971842 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Liposarcoma | 21253554 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Oral cancer | 21386901 | CNVD |
colon cancer | 17210682 | CNVD |
Lung adenocarcinoma | 21810691 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Hypothalamic hamartomas | 18252217 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Stenocardia | 21860640 | CNVD |
Vasospasm | 21860640 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Autism | 22495311 | CNVD |
Biliary cancer | 19435499 | CNVD |
Cancer | 21183584 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Williams-beuren syndrome | 22470819 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Gastric cancer | 24379144 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Lung cancer | 18438408 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Lissencephaly | 21572526 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Glioma | 17634744 | CNVD |
Oral squamous cell carcinoma | 19276369 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
Lung cancer | 20031968 | CNVD |
Glioblastoma | 17090523 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Glioma | 17123091 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Schizophrenia | 20967226 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:57484200-57486000 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
2 | chr7:57484200-57487600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr7:57484400-57486000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
4 | chr7:57484800-57485600 | ZNF genes & repeats | Pancreas | Pancrea |
5 | chr7:57484800-57487600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr7:57485600-57486400 | Bivalent/Poised TSS | Skeletal Muscle Male | skeletal muscle |
7 | chr7:57486000-57486200 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr7:57486000-57487600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |