Variant report

Variant	nsv964314
Chromosome Location	chr4:127403789-127407275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127404431..127407889-chr4:127409968..127412759,3	K562	blood:
2	chr4:127405680..127406372-chr4:127525098..127525686,2	MCF-7	breast:
3	chr4:127396571..127400673-chr4:127401493..127405993,4	K562	blood:
4	chr4:127404431..127406703-chr4:127409978..127411924,2	K562	blood:
5	chr4:127397720..127399980-chr4:127400874..127404758,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200794653	chr4:127403851-127403852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376860555	chr4:127403901-127403902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180787089	chr4:127404063-127404064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571234046	chr4:127404078-127404079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555958968	chr4:127404110-127404111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373460400	chr4:127404118-127404119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577998623	chr4:127404189-127404190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567865988	chr4:127404245-127404246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535748265	chr4:127404258-127404259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147825944	chr4:127404314-127404315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534204231	chr4:127404324-127404325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115014422	chr4:127404332-127404333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186548865	chr4:127404482-127404483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75790885	chr4:127404489-127404490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576220824	chr4:127404508-127404509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189435220	chr4:127404550-127404551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562270720	chr4:127404552-127404553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7699051	chr4:127404615-127404616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181760594	chr4:127404655-127404656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559773740	chr4:127404660-127404661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542821921	chr4:127404717-127404718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542562081	chr4:127404728-127404729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7677260	chr4:127404747-127404748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140283654	chr4:127404775-127404776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530913466	chr4:127404804-127404805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549023931	chr4:127404805-127404806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370842279	chr4:127404851-127404852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567953731	chr4:127404871-127404872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186778716	chr4:127404887-127404888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560890868	chr4:127404911-127404912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75047000	chr4:127404926-127404927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539687973	chr4:127404951-127404952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555894596	chr4:127404960-127404961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191679538	chr4:127404967-127404968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573455773	chr4:127404971-127404972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373590465	chr4:127405013-127405014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576060675	chr4:127405023-127405024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537154733	chr4:127405031-127405032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376577133	chr4:127405058-127405059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555494193	chr4:127405075-127405076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574204450	chr4:127405124-127405125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183079313	chr4:127405150-127405151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541249904	chr4:127405151-127405152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559863241	chr4:127405164-127405165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543489585	chr4:127405200-127405201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576076561	chr4:127405204-127405205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545246835	chr4:127405205-127405206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563348570	chr4:127405237-127405238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530803149	chr4:127405298-127405299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116124500	chr4:127405313-127405314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127392200-127413200	Weak transcription	K562	blood

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