Variant report
Variant | nsv9083 |
---|---|
Chromosome Location | chr13:66355467-66363273 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:25)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:25 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPB | chr13:66357410-66357610 | HepG2 | liver: | n/a | n/a |
2 | CTCF | chr13:66357800-66357950 | GM12869 | blood: | n/a | n/a |
3 | CTCF | chr13:66362113-66362146 | Medullo | brain: | n/a | n/a |
4 | MAFK | chr13:66356643-66356744 | HepG2 | liver: | n/a | n/a |
5 | MAFK | chr13:66363166-66363280 | HepG2 | liver: | n/a | chr13:66363235-66363250 chr13:66363240-66363251 chr13:66363239-66363250 chr13:66363240-66363251 chr13:66363239-66363250 |
6 | MAFK | chr13:66363128-66363359 | IMR90 | lung: | n/a | chr13:66363235-66363250 chr13:66363240-66363251 chr13:66363239-66363250 chr13:66363240-66363251 chr13:66363239-66363250 |
7 | MAFK | chr13:66363132-66363401 | HepG2 | liver: | n/a | chr13:66363235-66363250 chr13:66363240-66363251 chr13:66363239-66363250 chr13:66363240-66363251 chr13:66363239-66363250 |
8 | MYC | chr13:66357642-66357643 | MCF-7 | breast: | n/a | n/a |
9 | MYC | chr13:66357630-66357637 | MCF-7 | breast: | n/a | n/a |
10 | MYC | chr13:66357653-66357694 | MCF-7 | breast: | n/a | n/a |
11 | POLR2A | chr13:66357582-66357664 | MCF-7 | breast: | n/a | n/a |
12 | POLR2A | chr13:66362052-66362406 | GM12878 | blood: | n/a | n/a |
13 | POLR2A | chr13:66362291-66362847 | H1-hESC | embryonic stem cell: | n/a | n/a |
14 | POLR2A | chr13:66355489-66355545 | MCF10A-Er-Src | breast: | n/a | n/a |
15 | POLR2A | chr13:66361574-66362155 | H1-hESC | embryonic stem cell: | n/a | n/a |
16 | POLR2A | chr13:66358153-66358216 | MCF10A-Er-Src | breast: | n/a | n/a |
17 | POLR2A | chr13:66362036-66362440 | GM12878 | blood: | n/a | n/a |
18 | POLR2A | chr13:66362447-66362761 | GM12878 | blood: | n/a | n/a |
19 | POLR2A | chr13:66357672-66357718 | MCF-7 | breast: | n/a | n/a |
20 | RFX5 | chr13:66363211-66364848 | IMR90 | lung: | n/a | chr13:66364141-66364150 |
21 | STAT3 | chr13:66359387-66359435 | MCF10A-Er-Src | breast: | n/a | n/a |
22 | STAT3 | chr13:66359999-66360199 | MCF10A-Er-Src | breast: | n/a | n/a |
23 | STAT3 | chr13:66361467-66361581 | MCF10A-Er-Src | breast: | n/a | n/a |
24 | STAT3 | chr13:66360011-66360303 | MCF10A-Er-Src | breast: | n/a | n/a |
25 | ZBTB33 | chr13:66361940-66362246 | K562 | blood: | n/a | chr13:66362029-66362038 chr13:66361981-66361990 |
No data |
(count:2 , 50 per page) page:
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No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
HNRNPA3P5 | TF binding region |
ENSG00000236565 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs142843505 | chr13:66355467-66355468 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs150616394 | chr13:66355546-66355547 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs535398321 | chr13:66355566-66355567 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs555441230 | chr13:66355606-66355607 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs572365160 | chr13:66355627-66355628 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs9317534 | chr13:66355635-66355636 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs565554242 | chr13:66355662-66355663 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs139673351 | chr13:66355703-66355704 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs577735995 | chr13:66355738-66355739 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs149962612 | chr13:66355742-66355743 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs9540552 | chr13:66355762-66355763 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs76303246 | chr13:66355769-66355770 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs542604626 | chr13:66355804-66355805 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs182096279 | chr13:66355849-66355850 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs373016972 | chr13:66355906-66355907 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs575464488 | chr13:66355912-66355913 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs186337390 | chr13:66356007-66356008 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs560947810 | chr13:66356020-66356021 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs565460941 | chr13:66356034-66356035 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs531086711 | chr13:66356042-66356043 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs191587629 | chr13:66356050-66356051 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs569757561 | chr13:66356099-66356100 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs182100354 | chr13:66356100-66356101 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs535589840 | chr13:66356102-66356103 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs548974630 | chr13:66356113-66356114 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs565711961 | chr13:66356120-66356121 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs540220981 | chr13:66356146-66356147 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs146510487 | chr13:66356167-66356168 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs558007670 | chr13:66356179-66356180 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs577866125 | chr13:66356187-66356188 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs537212126 | chr13:66356210-66356211 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs141042012 | chr13:66356223-66356224 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs114115638 | chr13:66356224-66356225 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs542741875 | chr13:66356277-66356278 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs73500540 | chr13:66356289-66356290 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs573156658 | chr13:66356320-66356321 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs17077331 | chr13:66356341-66356342 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | disease |
38 | rs143365461 | chr13:66356393-66356394 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs113888087 | chr13:66356479-66356480 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs534178379 | chr13:66356519-66356520 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs531149138 | chr13:66356583-66356584 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs551191683 | chr13:66356594-66356595 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs190890585 | chr13:66356633-66356634 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs61954142 | chr13:66356658-66356659 | Inactive region | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs370070768 | chr13:66356681-66356682 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs549062259 | chr13:66356685-66356686 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs146709573 | chr13:66356732-66356733 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs534564962 | chr13:66356771-66356772 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs550918241 | chr13:66356834-66356835 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs78835340 | chr13:66356841-66356842 | Inactive region | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 21858162 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Gastric cancer | 17908304 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17393978 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
abnormal development | 18461090 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Prostate cancer | 16461572 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Intellectual disability | 21811512 | CNVD |
Colorectal cancer | 21645411 | CNVD |
Melanoma | 20877625 | CNVD |
T-cell lymphomas | 22341440 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:66357600-66358000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr13:66358000-66358400 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |