Variant report

Variant	nsv960996
Chromosome Location	chr2:183673869-183677948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183666474..183669367-chr2:183675559..183677309,2	K562	blood:
2	chr2:183668592..183670850-chr2:183672599..183674882,2	K562	blood:
3	chr2:183664890..183667245-chr2:183673485..183675403,2	K562	blood:
4	chr2:183666072..183668811-chr2:183672766..183675135,2	MCF-7	breast:
5	chr2:183676117..183678247-chr2:183702144..183703855,2	MCF-7	breast:
6	chr2:183676835..183678660-chr2:183680847..183683198,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536176838	chr2:183674273-183674274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552865565	chr2:183674278-183674279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572478963	chr2:183674281-183674282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544610353	chr2:183674297-183674298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183993695	chr2:183674301-183674302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76054160	chr2:183674308-183674309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373908860	chr2:183674364-183674365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543994432	chr2:183674380-183674381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572197297	chr2:183674468-183674469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36109635	chr2:183674473-183674474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141220891	chr2:183674548-183674549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147232617	chr2:183674648-183674649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529593230	chr2:183674664-183674665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549662158	chr2:183674688-183674689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560109454	chr2:183674740-183674741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528446704	chr2:183674755-183674756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541228466	chr2:183674763-183674764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34831937	chr2:183674768-183674769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150744506	chr2:183674771-183674772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571705495	chr2:183674807-183674808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537194999	chr2:183674819-183674820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550735533	chr2:183674831-183674832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139707297	chr2:183674863-183674864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143588032	chr2:183674876-183674877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552803711	chr2:183674947-183674948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189136446	chr2:183674948-183674949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538621078	chr2:183675020-183675021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147220032	chr2:183675067-183675068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575278886	chr2:183675155-183675156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560964338	chr2:183675227-183675228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115413338	chr2:183675289-183675290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192184817	chr2:183675334-183675335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9288085	chr2:183675494-183675495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546549353	chr2:183675500-183675501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs288352	chr2:183675522-183675523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7561568	chr2:183675524-183675525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7587990	chr2:183675543-183675544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560046536	chr2:183675563-183675564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528834646	chr2:183675567-183675568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545381224	chr2:183675574-183675575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565163365	chr2:183675580-183675581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373164826	chr2:183675626-183675627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532169566	chr2:183675637-183675638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55955893	chr2:183675657-183675658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550769229	chr2:183675664-183675665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141601466	chr2:183675699-183675700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373035924	chr2:183675701-183675702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567425167	chr2:183675703-183675704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557893381	chr2:183675707-183675708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529800102	chr2:183675742-183675743	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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183674200-183680800	Weak transcription	Right Atrium	heart
2	chr2:183675800-183676000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:183675800-183676000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:183676000-183683600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:183677200-183677600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:183677600-183683000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:183677800-183678200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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