Variant report

Variant	nsv529043
Chromosome Location	chr1:166256831-166264243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1864792	chr1:166256831-166256832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551474232	chr1:166256874-166256875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571662944	chr1:166256907-166256908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572696695	chr1:166256924-166256925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2798415	chr1:166256938-166256939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369399043	chr1:166256959-166256960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370915851	chr1:166256968-166256969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536014746	chr1:166257014-166257015	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552754892	chr1:166257055-166257056	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183007563	chr1:166257075-166257076	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76070975	chr1:166257076-166257077	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538769123	chr1:166257117-166257118	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs919679	chr1:166257162-166257163	Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543509061	chr1:166257186-166257187	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575228360	chr1:166257200-166257201	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200591268	chr1:166257265-166257266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376853669	chr1:166257268-166257269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140704977	chr1:166257297-166257298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187581845	chr1:166257305-166257306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs68050019	chr1:166257310-166257311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563380639	chr1:166257410-166257411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574389822	chr1:166257411-166257412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1368021	chr1:166257423-166257424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560028253	chr1:166257424-166257425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573252057	chr1:166257435-166257436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145947583	chr1:166257463-166257464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529031604	chr1:166257466-166257467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565951150	chr1:166257474-166257475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542803374	chr1:166257583-166257584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193288442	chr1:166257653-166257654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530900077	chr1:166257669-166257670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536183816	chr1:166257715-166257716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550583508	chr1:166257843-166257844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559323648	chr1:166257888-166257889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185620595	chr1:166257941-166257942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369650666	chr1:166257965-166257966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546382181	chr1:166257969-166257970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189357683	chr1:166258009-166258010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185362356	chr1:166258034-166258035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2798417	chr1:166258055-166258056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552213209	chr1:166258102-166258103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568879655	chr1:166258136-166258137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537254864	chr1:166258141-166258142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558636229	chr1:166258179-166258180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537791256	chr1:166258191-166258192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75505452	chr1:166258198-166258199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574376863	chr1:166258236-166258237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536991340	chr1:166258252-166258253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553171129	chr1:166258324-166258325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138588310	chr1:166258345-166258346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166252800-166260600	Weak transcription	Left Ventricle	heart
2	chr1:166257000-166257200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:166259600-166260600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:166260600-166260800	Enhancers	Left Ventricle	heart

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