Variant report
Variant | esv1800951 |
---|---|
Chromosome Location | chr4:92380924-92428380 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:92034306..92035417-chr4:92423226..92424074,5 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs530832482 | chr4:92408029-92408030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs550917956 | chr4:92408030-92408031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs184372754 | chr4:92408039-92408040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs533648119 | chr4:92408085-92408086 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs13103495 | chr4:92408133-92408134 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs567062860 | chr4:92408149-92408150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs536005187 | chr4:92408165-92408166 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs188761348 | chr4:92408293-92408294 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs559981567 | chr4:92408340-92408341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs568110775 | chr4:92408365-92408366 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs559011262 | chr4:92408398-92408399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs116346031 | chr4:92408415-92408416 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs577119944 | chr4:92408518-92408519 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs527319637 | chr4:92408532-92408533 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs565147189 | chr4:92408533-92408534 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs556893544 | chr4:92408539-92408540 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs532159578 | chr4:92408581-92408582 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs145810232 | chr4:92408616-92408617 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs550555842 | chr4:92408690-92408691 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs138247208 | chr4:92408697-92408698 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs115642592 | chr4:92408741-92408742 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs149496791 | chr4:92408766-92408767 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs541403150 | chr4:92408811-92408812 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs112381967 | chr4:92408815-92408816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs74767295 | chr4:92408831-92408832 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs116830324 | chr4:92408867-92408868 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs13138113 | chr4:92408898-92408899 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs74426515 | chr4:92408899-92408900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs12640730 | chr4:92408975-92408976 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs73837624 | chr4:92408987-92408988 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs563847339 | chr4:92409166-92409167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs547319138 | chr4:92409171-92409172 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs112799162 | chr4:92409175-92409176 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs148620281 | chr4:92409282-92409283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs181952307 | chr4:92409283-92409284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs147645378 | chr4:92409313-92409314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs62309608 | chr4:92409328-92409329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs550200756 | chr4:92409357-92409358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs570121582 | chr4:92409368-92409369 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs539001251 | chr4:92409385-92409386 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs187054060 | chr4:92409386-92409387 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs572767175 | chr4:92409406-92409407 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs66754254 | chr4:92409421-92409422 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs78330206 | chr4:92409440-92409441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs575698781 | chr4:92409512-92409513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs76457446 | chr4:92409583-92409584 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs2178657 | chr4:92409607-92409608 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs142684238 | chr4:92409686-92409687 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs28741030 | chr4:92409712-92409713 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs565370461 | chr4:92409723-92409724 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16272173 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 18414403 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Mental retardation | 20522426 | CNVD |
delayed speech | 20522426 | CNVD |
growth disorder | 20522426 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Acute monocytic leukemia | 16498392 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Parkinson disease | 20877625 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Breast cancer | 17393978 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Obesity | 20622171 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 20164919 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:92408000-92408800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
2 | chr4:92408200-92408600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
3 | chr4:92408200-92408600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
4 | chr4:92408200-92408800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
5 | chr4:92408400-92408600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
6 | chr4:92408400-92408800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
7 | chr4:92408600-92409600 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
8 | chr4:92408600-92409600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
9 | chr4:92408800-92410000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
10 | chr4:92408800-92410000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
11 | chr4:92409600-92410000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
12 | chr4:92409800-92410000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
13 | chr4:92410000-92410400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
14 | chr4:92410200-92410400 | Enhancers | HUES64 Cell Line | embryonic stem cell |