Variant report

Variant	nsv1000414
Chromosome Location	chr2:185257041-185277398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185065862..185068679-chr2:185266062..185268642,2	K562	blood:
2	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
3	chr2:185265120..185267657-chr2:185268029..185269760,2	K562	blood:
4	chr2:185267016..185267836-chr3:27870668..27871485,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570588172	chr2:185259401-185259402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542418127	chr2:185259410-185259411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113992313	chr2:185259411-185259412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150262023	chr2:185259443-185259444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372459230	chr2:185259444-185259445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534581815	chr2:185259445-185259446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552522088	chr2:185259490-185259491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552818013	chr2:185259587-185259588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574404422	chr2:185259626-185259627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535416457	chr2:185259682-185259683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34959041	chr2:185259695-185259696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371061126	chr2:185259744-185259745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557078070	chr2:185259759-185259760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565152693	chr2:185259801-185259802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570712495	chr2:185259831-185259832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532539211	chr2:185259838-185259839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79444326	chr2:185259842-185259843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571309295	chr2:185259865-185259866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540845071	chr2:185259901-185259902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562329482	chr2:185259925-185259926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529616896	chr2:185259999-185260000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181406385	chr2:185260000-185260001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554054741	chr2:185270413-185270414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13425738	chr2:185270447-185270448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs59248537	chr2:185270454-185270455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190447869	chr2:185270475-185270476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537058050	chr2:185270481-185270482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113066756	chr2:185270533-185270534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543421902	chr2:185270554-185270555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79032594	chr2:185270578-185270579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576974056	chr2:185270584-185270585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148509566	chr2:185270585-185270586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114725955	chr2:185270630-185270631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193286704	chr2:185270703-185270704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375301512	chr2:185270721-185270722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564022205	chr2:185270751-185270752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142768100	chr2:185270761-185270762	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185259400-185260000	Enhancers	Liver	Liver
2	chr2:185270400-185270800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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