Variant report

Variant	nsv964731
Chromosome Location	chr4:151629692-151633681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151633001..151635835-chr4:151637642..151641850,4	K562	blood:
2	chr4:151633048..151635835-chr4:151637642..151641850,3	K562	blood:
3	chr4:151630512..151632998-chr4:151636765..151638746,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543785052	chr4:151629733-151629734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537326931	chr4:151629800-151629801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555316918	chr4:151629820-151629821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368398340	chr4:151629873-151629874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115366892	chr4:151629875-151629876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545636837	chr4:151630002-151630003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567442677	chr4:151630007-151630008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559424118	chr4:151630070-151630071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528143326	chr4:151630092-151630093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575274176	chr4:151630161-151630162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548254669	chr4:151630172-151630173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201418536	chr4:151630233-151630234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534767392	chr4:151630249-151630250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567747553	chr4:151630250-151630251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76362325	chr4:151630299-151630300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550102558	chr4:151630303-151630304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148592951	chr4:151630316-151630317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555331804	chr4:151630325-151630326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56943310	chr4:151630351-151630352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569974544	chr4:151630352-151630353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189394040	chr4:151630372-151630373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558849009	chr4:151630399-151630400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577786181	chr4:151630437-151630438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545041603	chr4:151630462-151630463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191777651	chr4:151630552-151630553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534834294	chr4:151630568-151630569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112531030	chr4:151630592-151630593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537927901	chr4:151630624-151630625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143245086	chr4:151630644-151630645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111532759	chr4:151630657-151630658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556903619	chr4:151630667-151630668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148172081	chr4:151630670-151630671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72736402	chr4:151630679-151630680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577184965	chr4:151630773-151630774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545997608	chr4:151630787-151630788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559321415	chr4:151630820-151630821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577778804	chr4:151630880-151630881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572972207	chr4:151630905-151630906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541607857	chr4:151630921-151630922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12507255	chr4:151630959-151630960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530433942	chr4:151630985-151630986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561364334	chr4:151631011-151631012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550133191	chr4:151631022-151631023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10027710	chr4:151631057-151631058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150720757	chr4:151631096-151631097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139060998	chr4:151631114-151631115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144039761	chr4:151631134-151631135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113818750	chr4:151631138-151631139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536332782	chr4:151631217-151631218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542688083	chr4:151631233-151631234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:151582200-151642800	Weak transcription	Left Ventricle	heart
4	chr4:151595000-151654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:151601600-151644400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:151602200-151643800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:151604800-151644600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:151605600-151644200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:151606000-151643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:151617800-151643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:151621000-151631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:151621200-151644000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:151623200-151643000	Weak transcription	Primary B cells from cord blood	blood
14	chr4:151628000-151635000	Weak transcription	HepG2	liver
15	chr4:151629600-151631400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:151631200-151632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:151631400-151631600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:151632200-151637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151633000-151642200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:151633000-151644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:151633000-151644000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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