Variant report

Variant	nsv1001539
Chromosome Location	chr4:44991475-45006323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
2	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:

Extended variants
information (count: 703 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:703 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569449601	chr4:44991526-44991527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568270466	chr4:44991534-44991535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562872668	chr4:44991537-44991538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180679901	chr4:44991538-44991539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534246609	chr4:44991539-44991540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558672843	chr4:44991542-44991543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577305174	chr4:44991545-44991546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544361518	chr4:44991560-44991561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4481265	chr4:44991590-44991591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149870931	chr4:44991596-44991597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542524333	chr4:44991632-44991633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561502981	chr4:44991673-44991674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78955612	chr4:44991687-44991688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146463148	chr4:44991688-44991689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564710154	chr4:44991698-44991699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542294250	chr4:44991723-44991724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139858127	chr4:44991741-44991742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550664724	chr4:44991759-44991760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13123198	chr4:44991832-44991833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184504499	chr4:44991834-44991835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143423056	chr4:44991835-44991836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189280977	chr4:44991880-44991881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370467682	chr4:44991893-44991894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567196479	chr4:44991910-44991911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546776684	chr4:44991920-44991921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114206877	chr4:44991921-44991922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182021010	chr4:44991947-44991948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146725408	chr4:44991952-44991953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373061087	chr4:44991974-44991975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13123623	chr4:44991987-44991988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556199301	chr4:44991998-44991999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148865000	chr4:44992021-44992022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542461377	chr4:44992053-44992054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185771580	chr4:44992102-44992103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573125719	chr4:44992123-44992124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540134976	chr4:44992182-44992183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143609394	chr4:44992185-44992186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57239642	chr4:44992227-44992228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4456993	chr4:44992230-44992231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4447894	chr4:44992288-44992289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs151001984	chr4:44992324-44992325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190644615	chr4:44992327-44992328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535895773	chr4:44992332-44992333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182055038	chr4:44992355-44992356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140458738	chr4:44992385-44992386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147031662	chr4:44992397-44992398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186247498	chr4:44992401-44992402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552560187	chr4:44992445-44992446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370080235	chr4:44992456-44992457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570834584	chr4:44992470-44992471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:44996800-44997400	Enhancers	HMEC	breast
5	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:45006200-45008400	Enhancers	HMEC	breast
11	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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