Variant report

Variant	nsv979379
Chromosome Location	chr2:180589246-180596723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180584134..180586759-chr2:180588333..180591322,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567474531	chr2:180591029-180591030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149611528	chr2:180591030-180591031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74474926	chr2:180591053-180591054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573216037	chr2:180591067-180591068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538929522	chr2:180591073-180591074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199588969	chr2:180591143-180591144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112165265	chr2:180591181-180591182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558524496	chr2:180591213-180591214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555172978	chr2:180591246-180591247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544308678	chr2:180591251-180591252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74949558	chr2:180591271-180591272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369287927	chr2:180591318-180591319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574175124	chr2:180591348-180591349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554615409	chr2:180591370-180591371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540462632	chr2:180591408-180591409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1964081	chr2:180591421-180591422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532714410	chr2:180591433-180591434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537766044	chr2:180591460-180591461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186357066	chr2:180591493-180591494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376374731	chr2:180591494-180591495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144361407	chr2:180591500-180591501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531575144	chr2:180591555-180591556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112456470	chr2:180591620-180591621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115878432	chr2:180591670-180591671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542618765	chr2:180591698-180591699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189497619	chr2:180591702-180591703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576831209	chr2:180591796-180591797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183834918	chr2:180594826-180594827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549645986	chr2:180594852-180594853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566232217	chr2:180594885-180594886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564263833	chr2:180594886-180594887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73046852	chr2:180594894-180594895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368637612	chr2:180594938-180594939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149930569	chr2:180594940-180594941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188113108	chr2:180594943-180594944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537483871	chr2:180594988-180594989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557065379	chr2:180595008-180595009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181995355	chr2:180595034-180595035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542663935	chr2:180595040-180595041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540517558	chr2:180595046-180595047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112603142	chr2:180595063-180595064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555149461	chr2:180595065-180595066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562024050	chr2:180595147-180595148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571871506	chr2:180595149-180595150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372733977	chr2:180595150-180595151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145017590	chr2:180595167-180595168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533060314	chr2:180595168-180595169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79184043	chr2:180595300-180595301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16866963	chr2:180595322-180595323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186325466	chr2:180595342-180595343	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180591000-180591800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:180594800-180595400	Enhancers	Liver	Liver

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