Variant report

Variant	nsv980200
Chromosome Location	chr4:45140665-45154939
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	chr4:45138171..45139730-chr4:45139776..45141399,2	K562	blood:

Extended variants
information (count: 636 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371142319	chr4:45140703-45140704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540023406	chr4:45140714-45140715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546563395	chr4:45140744-45140745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190642090	chr4:45140762-45140763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs986722	chr4:45140770-45140771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577065666	chr4:45140808-45140809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557138062	chr4:45140835-45140836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9999073	chr4:45140882-45140883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536564895	chr4:45140940-45140941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73814976	chr4:45140975-45140976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs951558	chr4:45141041-45141042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182565921	chr4:45141073-45141074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573593065	chr4:45141078-45141079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542313103	chr4:45141156-45141157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149379749	chr4:45141224-45141225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534682236	chr4:45141241-45141242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79896283	chr4:45141274-45141275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544675445	chr4:45141284-45141285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115897362	chr4:45141327-45141328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542819130	chr4:45141405-45141406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116694888	chr4:45141445-45141446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144654129	chr4:45141456-45141457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187701800	chr4:45141526-45141527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192651107	chr4:45141564-45141565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80266965	chr4:45141567-45141568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550229190	chr4:45141568-45141569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569130935	chr4:45141600-45141601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536477772	chr4:45141607-45141608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377027001	chr4:45141627-45141628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1828602	chr4:45141643-45141644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552815327	chr4:45141650-45141651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184547388	chr4:45141695-45141696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189026419	chr4:45141697-45141698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182409326	chr4:45141736-45141737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541874697	chr4:45141748-45141749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577132734	chr4:45141758-45141759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184723866	chr4:45141761-45141762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556720176	chr4:45141762-45141763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574967619	chr4:45141769-45141770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542886446	chr4:45141775-45141776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560270301	chr4:45141800-45141801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561135820	chr4:45141809-45141810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566817967	chr4:45141833-45141834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188834879	chr4:45141862-45141863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373266773	chr4:45141863-45141864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540481673	chr4:45141885-45141886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564744100	chr4:45141912-45141913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527421790	chr4:45141918-45141919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377656653	chr4:45141952-45141953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142808263	chr4:45141953-45141954	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	chr4:45125800-45174400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45146600-45146800	Enhancers	HSMM	muscle
3	chr4:45146800-45150200	Weak transcription	HSMM	muscle
4	chr4:45149400-45150600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:45149600-45150400	Enhancers	NH-A	brain
6	chr4:45150000-45150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:45150000-45150400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:45150200-45150400	Enhancers	HSMM	muscle
9	chr4:45150200-45150600	Enhancers	HMEC	breast
10	chr4:45150400-45157200	Weak transcription	HSMM	muscle
11	chr4:45150600-45156800	Weak transcription	Muscle Satellite Cultured Cells	--

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