Variant report

Variant	nsv520477
Chromosome Location	chr4:142440271-142444108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7692579	chr4:142440271-142440272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563564256	chr4:142440300-142440301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528352293	chr4:142440309-142440310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530976589	chr4:142440354-142440355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192593864	chr4:142440357-142440358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184834839	chr4:142440365-142440366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73849771	chr4:142440375-142440376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs57012837	chr4:142440437-142440438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188662724	chr4:142440492-142440493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568005582	chr4:142440553-142440554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535199450	chr4:142440581-142440582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550621170	chr4:142440620-142440621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569086571	chr4:142440658-142440659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180820678	chr4:142440665-142440666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112689920	chr4:142440704-142440705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368930414	chr4:142440714-142440715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551706445	chr4:142440717-142440718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534053469	chr4:142440776-142440777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35881750	chr4:142440778-142440779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574749220	chr4:142440803-142440804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375256071	chr4:142440807-142440808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185220968	chr4:142440821-142440822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575463987	chr4:142440849-142440850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545986270	chr4:142440851-142440852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564483497	chr4:142440864-142440865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528788397	chr4:142440866-142440867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540872183	chr4:142440873-142440874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561549760	chr4:142440881-142440882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79815837	chr4:142440913-142440914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78092485	chr4:142440928-142440929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138588699	chr4:142440936-142440937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140150178	chr4:142440969-142440970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113324761	chr4:142441010-142441011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76184524	chr4:142441030-142441031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189157778	chr4:142441048-142441049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568161588	chr4:142441055-142441056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555603455	chr4:142441138-142441139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568398494	chr4:142441141-142441142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1521766	chr4:142441203-142441204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150326727	chr4:142441224-142441225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575328198	chr4:142441225-142441226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545848810	chr4:142441236-142441237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34761999	chr4:142441368-142441369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151335582	chr4:142441369-142441370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138875097	chr4:142441378-142441379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539732116	chr4:142441380-142441381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558090699	chr4:142441381-142441382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562389217	chr4:142441394-142441395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34806519	chr4:142441413-142441414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567210805	chr4:142441414-142441415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142435400-142443200	Weak transcription	Aorta	Aorta
2	chr4:142438400-142443200	Weak transcription	Pancreas	Pancrea
3	chr4:142443200-142443400	ZNF genes & repeats	Aorta	Aorta
4	chr4:142443200-142443400	ZNF genes & repeats	Pancreas	Pancrea

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