Variant report

Variant	esv3381861
Chromosome Location	chr4:81587822-81608017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7693520	chr4:81599070-81599071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529944240	chr4:81599224-81599225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185202392	chr4:81599233-81599234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546451561	chr4:81599235-81599236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566422788	chr4:81599274-81599275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557730136	chr4:81599326-81599327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189882111	chr4:81599347-81599348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77925317	chr4:81599350-81599351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572392115	chr4:81599371-81599372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182457406	chr4:81599377-81599378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185409640	chr4:81599434-81599435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11733929	chr4:81599437-81599438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75042231	chr4:81599533-81599534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547779188	chr4:81599537-81599538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140758973	chr4:81599544-81599545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533493921	chr4:81599558-81599559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138595151	chr4:81599587-81599588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549954093	chr4:81599612-81599613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189481052	chr4:81599705-81599706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138921390	chr4:81599763-81599764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535511590	chr4:81599795-81599796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555141520	chr4:81599808-81599809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565784021	chr4:81599815-81599816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550520837	chr4:81599891-81599892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180835402	chr4:81599913-81599914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61372633	chr4:81599919-81599920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577995067	chr4:81599942-81599943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185621572	chr4:81599945-81599946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144615985	chr4:81600074-81600075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190034715	chr4:81600089-81600090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376415817	chr4:81600174-81600175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79628494	chr4:81600230-81600231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562003771	chr4:81600244-81600245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567147521	chr4:81600270-81600271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572505985	chr4:81600314-81600315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534187797	chr4:81600320-81600321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541066574	chr4:81600335-81600336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564182320	chr4:81600339-81600340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369703793	chr4:81600396-81600397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181625727	chr4:81600411-81600412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539486726	chr4:81600424-81600425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72864815	chr4:81600426-81600427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529429727	chr4:81600427-81600428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187046167	chr4:81600436-81600437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565591766	chr4:81600441-81600442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138504889	chr4:81600537-81600538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142254056	chr4:81600596-81600597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571292880	chr4:81600607-81600608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537067397	chr4:81600627-81600628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557325087	chr4:81600752-81600753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81599000-81599800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:81599000-81601200	Enhancers	Primary T cells from cord blood	blood
3	chr4:81599600-81600200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:81599600-81600400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:81600200-81601200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:81601200-81601400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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