Variant report

Variant	nsv979351
Chromosome Location	chr2:188512645-188518146
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	chr2:188506449..188508323-chr2:188511407..188513734,2	K562	blood:
2	chr2:188506973..188509886-chr2:188511524..188513522,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181748903	chr2:188512666-188512667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12469574	chr2:188512774-188512775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186262873	chr2:188512788-188512789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554209818	chr2:188512836-188512837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576213100	chr2:188512842-188512843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543480394	chr2:188512880-188512881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572442117	chr2:188512919-188512920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561942299	chr2:188512928-188512929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74836890	chr2:188512929-188512930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562001417	chr2:188512956-188512957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202054065	chr2:188512986-188512987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529104877	chr2:188512988-188512989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6710551	chr2:188512989-188512990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537429438	chr2:188513024-188513025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190483280	chr2:188513041-188513042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78383601	chr2:188513042-188513043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17708110	chr2:188513073-188513074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533940267	chr2:188513094-188513095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533222987	chr2:188513098-188513099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112522309	chr2:188513101-188513102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551457089	chr2:188513106-188513107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138707657	chr2:188513166-188513167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55682494	chr2:188513279-188513280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376120029	chr2:188513327-188513328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567942430	chr2:188513329-188513330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547622718	chr2:188513337-188513338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115063418	chr2:188513360-188513361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11886510	chr2:188513399-188513400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571702497	chr2:188513411-188513412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13389183	chr2:188513414-188513415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554272943	chr2:188513415-188513416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186266346	chr2:188513455-188513456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116326428	chr2:188513511-188513512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555421395	chr2:188513562-188513563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139487854	chr2:188513578-188513579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544140283	chr2:188513583-188513584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149536479	chr2:188513627-188513628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577389824	chr2:188513637-188513638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370270805	chr2:188513686-188513687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567359274	chr2:188513694-188513695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371239201	chr2:188513696-188513697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544720986	chr2:188513706-188513707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559792688	chr2:188513740-188513741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527331270	chr2:188513774-188513775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16829180	chr2:188513786-188513787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114986569	chr2:188513850-188513851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532035250	chr2:188513851-188513852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144189282	chr2:188513875-188513876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571825932	chr2:188513878-188513879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374528875	chr2:188513911-188513912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188500200-188519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:188503000-188522000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:188503000-188525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:188506000-188514600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:188506200-188515400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:188509600-188519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:188513200-188522000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:188513800-188526400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:188514400-188519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:188514600-188516200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:188514800-188521200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:188515400-188517800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:188516200-188519400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:188517800-188519400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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