Variant report
Variant | esv3369349 |
---|---|
Chromosome Location | chr4:187835002-187835541 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:187828658..187830841-chr4:187832726..187835053,2 | K562 | blood: | |
2 | chr4:187831408..187833132-chr4:187833213..187835608,2 | MCF-7 | breast: | |
3 | chr4:187761346..187763070-chr4:187833747..187836237,2 | K562 | blood: | |
4 | chr4:187834719..187836677-chr4:187841436..187844057,2 | 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 | rs567580637 | chr4:187835004-187835005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs535861557 | chr4:187835005-187835006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs546160462 | chr4:187835016-187835017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs566112762 | chr4:187835045-187835046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs532449001 | chr4:187835051-187835052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs395580 | chr4:187835061-187835062 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs558612915 | chr4:187835087-187835088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs184088531 | chr4:187835097-187835098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs562020950 | chr4:187835101-187835102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs554910177 | chr4:187835111-187835112 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs574748232 | chr4:187835149-187835150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs138154192 | chr4:187835170-187835171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs368660434 | chr4:187835173-187835174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs559813183 | chr4:187835195-187835196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs573174796 | chr4:187835256-187835257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs28610515 | chr4:187835260-187835261 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs565374959 | chr4:187835262-187835263 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs367812030 | chr4:187835293-187835294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs188589818 | chr4:187835303-187835304 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs193244532 | chr4:187835322-187835323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs530357249 | chr4:187835362-187835363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs322425 | chr4:187835371-187835372 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs566173646 | chr4:187835377-187835378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs143800338 | chr4:187835387-187835388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs147278909 | chr4:187835398-187835399 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs536307228 | chr4:187835411-187835412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs568891822 | chr4:187835425-187835426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs537658629 | chr4:187835463-187835464 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs554774193 | chr4:187835513-187835514 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs574662992 | chr4:187835515-187835516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs322426 | chr4:187835522-187835523 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs183741818 | chr4:187835528-187835529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs573202768 | chr4:187835540-187835541 | Weak transcription | 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 |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 20067559 | 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 |
Breast cancer | 16608533 | CNVD |
Wilms tumour | 21544195 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 16272173 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Breast cancer | 21785460 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 21633010 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20581869 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
abnormal development | 18461090 | CNVD |
Neuroblastoma | 16790693 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Facioscapulohumeral muscular dystrophy | 21829175 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Autism | 18414403 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 20164919 | CNVD |
Breast cancer | 20409316 | CNVD |
Rhabdomyosarcoma | 16790082 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 21399695 | CNVD |
Developmental delay | 22127048 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Cervical cancer | 21063398 | CNVD |
Oral cancer | 21386901 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:187826000-187840200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
2 | chr4:187826200-187837000 | Weak transcription | HMEC | breast |
3 | chr4:187826200-187840800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
4 | chr4:187826200-187841400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
5 | chr4:187827400-187838800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
6 | chr4:187832000-187836800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr4:187832000-187837200 | Weak transcription | Fetal Lung | lung |
8 | chr4:187834600-187836800 | Weak transcription | NHEK | skin |