Variant report

Variant	nsv946542
Chromosome Location	chr1:186427201-186430101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34373866	chr1:186427248-186427249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535950143	chr1:186427250-186427251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555567796	chr1:186427269-186427270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569995804	chr1:186427287-186427288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111973735	chr1:186427339-186427340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377756867	chr1:186427358-186427359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71188310	chr1:186427365-186427366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200852224	chr1:186427366-186427367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534852517	chr1:186427386-186427387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553259925	chr1:186427429-186427430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578146639	chr1:186427438-186427439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545430048	chr1:186427443-186427444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72713781	chr1:186427448-186427449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575730008	chr1:186427457-186427458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60982539	chr1:186427478-186427479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561342143	chr1:186427526-186427527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373917309	chr1:186427532-186427533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4007511	chr1:186427561-186427562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4007512	chr1:186427592-186427593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546778558	chr1:186427617-186427618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565181399	chr1:186427648-186427649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532303022	chr1:186427652-186427653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550584958	chr1:186427768-186427769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373032434	chr1:186427772-186427773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568737780	chr1:186427779-186427780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372495761	chr1:186427845-186427846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183216501	chr1:186427877-186427878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547895460	chr1:186427893-186427894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375683618	chr1:186427971-186427972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566188001	chr1:186428008-186428009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534888364	chr1:186428104-186428105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553145622	chr1:186428222-186428223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560113838	chr1:186428228-186428229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578226956	chr1:186428234-186428235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186177926	chr1:186428236-186428237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557355636	chr1:186428243-186428244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190503341	chr1:186428244-186428245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543009227	chr1:186428251-186428252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376229373	chr1:186428259-186428260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573328501	chr1:186428290-186428291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530037027	chr1:186428301-186428302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548602686	chr1:186428312-186428313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540480504	chr1:186428335-186428336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1929093	chr1:186428345-186428346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564914751	chr1:186428353-186428354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34218705	chr1:186428486-186428487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532465046	chr1:186428522-186428523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544200000	chr1:186428540-186428541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138181185	chr1:186428575-186428576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183366533	chr1:186428653-186428654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
2	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain

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