Variant report

Variant	nsv969924
Chromosome Location	chr5:50330458-50333233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50325650..50327333-chr5:50328782..50330761,2	K562	blood:
2	chr5:50330344..50330970-chr5:50356470..50357101,2	MCF-7	breast:
3	chr5:50325833..50328236-chr5:50328684..50330761,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 84 )

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	rs150068395	chr5:50330466-50330467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188810824	chr5:50330487-50330488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557893862	chr5:50330490-50330491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577477094	chr5:50330503-50330504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550008018	chr5:50330518-50330519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374289966	chr5:50330528-50330529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191044046	chr5:50330559-50330560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145404474	chr5:50330565-50330566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112548802	chr5:50330571-50330572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199771268	chr5:50330583-50330584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576657260	chr5:50330627-50330628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542559746	chr5:50330630-50330631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183218890	chr5:50330654-50330655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527691109	chr5:50330667-50330668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541093684	chr5:50330732-50330733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187468204	chr5:50330763-50330764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116149020	chr5:50330787-50330788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549694298	chr5:50330791-50330792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192017537	chr5:50330870-50330871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115201978	chr5:50330895-50330896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140150670	chr5:50330919-50330920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565636654	chr5:50330976-50330977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534615000	chr5:50330979-50330980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557855208	chr5:50331049-50331050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184827412	chr5:50331055-50331056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74737645	chr5:50331116-50331117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567696284	chr5:50331155-50331156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534602081	chr5:50331156-50331157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188088504	chr5:50331246-50331247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576583419	chr5:50331287-50331288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192369745	chr5:50331295-50331296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116619282	chr5:50331365-50331366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554204822	chr5:50331392-50331393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184653518	chr5:50331397-50331398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572382153	chr5:50331421-50331422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540412456	chr5:50331526-50331527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200921271	chr5:50331534-50331535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188280800	chr5:50331584-50331585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182013891	chr5:50331630-50331631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184856700	chr5:50331686-50331687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543943019	chr5:50331715-50331716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189136314	chr5:50331728-50331729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529095292	chr5:50331752-50331753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576339358	chr5:50331814-50331815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181699451	chr5:50331816-50331817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566000496	chr5:50331887-50331888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143758088	chr5:50331902-50331903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561967535	chr5:50332006-50332007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551377736	chr5:50332022-50332023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571313697	chr5:50332076-50332077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50330200-50330800	Enhancers	Stomach Mucosa	stomach
2	chr5:50330200-50331200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:50330400-50330800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:50330800-50334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:50331000-50331200	Enhancers	Liver	Liver

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