Variant report

Variant	nsv594746
Chromosome Location	chr4:85083860-85089168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:84565617..84566470-chr4:85088713..85089282,2	MCF-7	breast:
2	chr4:84882460..84883415-chr4:85088632..85089152,2	MCF-7	breast:
3	chr4:84827046..84827675-chr4:85088517..85089246,2	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2868877	chr4:85083860-85083861	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573927725	chr4:85083889-85083890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs542469393	chr4:85083905-85083906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs9992688	chr4:85083974-85083975	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371071589	chr4:85083992-85083993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs192605664	chr4:85084004-85084005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544948094	chr4:85084075-85084076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560405825	chr4:85084080-85084081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373054450	chr4:85084104-85084105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147133136	chr4:85084108-85084109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542888543	chr4:85084115-85084116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115237775	chr4:85084133-85084134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373108470	chr4:85084220-85084221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550860037	chr4:85084245-85084246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145311272	chr4:85084369-85084370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184273217	chr4:85084388-85084389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189093159	chr4:85084410-85084411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6843857	chr4:85084417-85084418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532538201	chr4:85084465-85084466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6820390	chr4:85084480-85084481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547735419	chr4:85084608-85084609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111529446	chr4:85084609-85084610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370391462	chr4:85084620-85084621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530503857	chr4:85084626-85084627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536446387	chr4:85084631-85084632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181337510	chr4:85084636-85084637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17008219	chr4:85084658-85084659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186158668	chr4:85084697-85084698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189878424	chr4:85084698-85084699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537513289	chr4:85084727-85084728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75303506	chr4:85084765-85084766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201674018	chr4:85084767-85084768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576417989	chr4:85084768-85084769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77449802	chr4:85084769-85084770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74462195	chr4:85084770-85084771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397994321	chr4:85084782-85084783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377365339	chr4:85084837-85084838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72945716	chr4:85084871-85084872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371380736	chr4:85084927-85084928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577525899	chr4:85084973-85084974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180766237	chr4:85085025-85085026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151180113	chr4:85085026-85085027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572396622	chr4:85085046-85085047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140199298	chr4:85085069-85085070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561028570	chr4:85085095-85085096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531556274	chr4:85085098-85085099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543502633	chr4:85085114-85085115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11397167	chr4:85085139-85085140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34958308	chr4:85085140-85085141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565391186	chr4:85085159-85085160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85080400-85084000	Enhancers	Fetal Intestine Small	intestine
2	chr4:85083200-85086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:85083400-85084000	Enhancers	Fetal Intestine Large	intestine
4	chr4:85083600-85084000	Bivalent Enhancer	Dnd41	blood
5	chr4:85085000-85085400	Enhancers	Fetal Lung	lung
6	chr4:85086400-85086600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:85086400-85086600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:85086400-85086800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:85086600-85088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:85086600-85088600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:85088600-85089200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:85088600-85089400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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