Variant report

Variant	nsv518941
Chromosome Location	chr4:45269546-45276828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1500496	chr4:45269546-45269547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372694361	chr4:45269568-45269569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148695227	chr4:45269623-45269624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561783991	chr4:45269631-45269632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529230041	chr4:45269657-45269658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547533591	chr4:45269719-45269720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1500497	chr4:45269727-45269728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577346045	chr4:45269735-45269736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200774895	chr4:45269761-45269762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533422985	chr4:45269764-45269765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184421399	chr4:45269785-45269786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115237168	chr4:45272819-45272820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554897867	chr4:45272845-45272846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544462939	chr4:45272862-45272863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372965996	chr4:45273061-45273062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562661187	chr4:45273063-45273064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561828307	chr4:45273070-45273071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141839774	chr4:45273086-45273087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146282484	chr4:45273164-45273165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370434472	chr4:45273179-45273180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186866734	chr4:45273183-45273184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569323410	chr4:45273191-45273192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28846797	chr4:45273204-45273205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115030477	chr4:45273205-45273206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139279334	chr4:45273273-45273274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534007540	chr4:45273306-45273307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114943452	chr4:45273307-45273308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374884632	chr4:45273373-45273374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577744696	chr4:45273392-45273393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192399966	chr4:45273396-45273397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142581820	chr4:45273431-45273432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574934317	chr4:45273498-45273499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542223915	chr4:45273503-45273504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144713531	chr4:45273541-45273542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528206708	chr4:45273547-45273548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546364608	chr4:45273590-45273591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28750499	chr4:45273596-45273597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115363654	chr4:45273715-45273716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551338953	chr4:45273736-45273737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371328848	chr4:45273755-45273756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35557500	chr4:45273805-45273806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148536502	chr4:45273923-45273924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566836370	chr4:45273935-45273936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551993601	chr4:45273940-45273941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185039797	chr4:45273942-45273943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188582161	chr4:45273955-45273956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577812317	chr4:45273960-45273961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118120543	chr4:45273983-45273984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192999463	chr4:45274027-45274028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538446169	chr4:45274043-45274044	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
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45257200-45269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45272800-45275000	Weak transcription	Psoas Muscle	Psoas

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