Variant report

Variant	esv3424940
Chromosome Location	chr2:186464098-186469371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542106929	chr2:186464113-186464114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543506874	chr2:186464123-186464124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2193613	chr2:186464179-186464180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532366593	chr2:186464244-186464245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566593057	chr2:186464265-186464266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369409270	chr2:186464277-186464278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184662797	chr2:186464381-186464382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530414721	chr2:186464384-186464385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373223180	chr2:186464467-186464468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570108843	chr2:186464494-186464495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537968489	chr2:186464504-186464505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560231587	chr2:186464506-186464507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7556993	chr2:186464518-186464519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545847371	chr2:186464537-186464538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571305031	chr2:186464563-186464564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538284273	chr2:186464567-186464568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73978687	chr2:186464603-186464604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189153921	chr2:186464620-186464621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565680682	chr2:186464691-186464692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536103689	chr2:186464766-186464767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554347820	chr2:186464816-186464817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180931419	chr2:186464835-186464836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543911697	chr2:186464848-186464849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34191961	chr2:186464849-186464850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577244322	chr2:186464905-186464906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541483725	chr2:186464922-186464923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559773097	chr2:186465000-186465001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530425161	chr2:186465048-186465049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575111395	chr2:186465063-186465064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183516119	chr2:186465074-186465075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531047215	chr2:186465081-186465082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189991949	chr2:186465102-186465103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571302079	chr2:186465113-186465114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532071114	chr2:186465116-186465117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535610513	chr2:186465117-186465118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376510079	chr2:186465157-186465158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371221384	chr2:186465169-186465170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149564008	chr2:186465202-186465203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144370444	chr2:186465219-186465220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148795510	chr2:186465247-186465248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531820516	chr2:186465305-186465306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569913902	chr2:186465322-186465323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75825234	chr2:186465323-186465324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550334148	chr2:186465333-186465334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563940081	chr2:186465374-186465375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558712362	chr2:186465420-186465421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555605943	chr2:186465436-186465437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577306652	chr2:186465469-186465470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568339447	chr2:186465483-186465484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374388019	chr2:186465490-186465491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186450000-186467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186463200-186464200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:186463200-186464200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:186464000-186464200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:186467200-186468000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:186468000-186473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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