Variant report

Variant	nsv520715
Chromosome Location	chr2:77021928-77080291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
2	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:
3	chr2:77048830..77049446-chr2:77059405..77060125,2	MCF-7	breast:
4	chr2:77040309..77042734-chr2:77044070..77045998,2	K562	blood:

Extended variants
information (count: 2075 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10170138	chr2:77021928-77021929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574391756	chr2:77021956-77021957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141692686	chr2:77022003-77022004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72258617	chr2:77022004-77022005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539337495	chr2:77022031-77022032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557133490	chr2:77022038-77022039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556126330	chr2:77022045-77022046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574602846	chr2:77022064-77022065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116771506	chr2:77022083-77022084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545861162	chr2:77022109-77022110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62172107	chr2:77022114-77022115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572866801	chr2:77022128-77022129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10196216	chr2:77022133-77022134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558049032	chr2:77022154-77022155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572244061	chr2:77022178-77022179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6731461	chr2:77022187-77022188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548460518	chr2:77022192-77022193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140440540	chr2:77022213-77022214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552112307	chr2:77022221-77022222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186591498	chr2:77022236-77022237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552628081	chr2:77022244-77022245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534283356	chr2:77022252-77022253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565837946	chr2:77022256-77022257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534651002	chr2:77022289-77022290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546596705	chr2:77022302-77022303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57132438	chr2:77022317-77022318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114667555	chr2:77022318-77022319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531883555	chr2:77022338-77022339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202215511	chr2:77022345-77022346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200404156	chr2:77022351-77022352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557204036	chr2:77022352-77022353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201586305	chr2:77022380-77022381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557002515	chr2:77022418-77022419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575379458	chr2:77022429-77022430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539295560	chr2:77022437-77022438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557831609	chr2:77022440-77022441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76687295	chr2:77022446-77022447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149676906	chr2:77022467-77022468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181733007	chr2:77022473-77022474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186391172	chr2:77022477-77022478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79514485	chr2:77022478-77022479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10221841	chr2:77022492-77022493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542490108	chr2:77022517-77022518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57980333	chr2:77022539-77022540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544350573	chr2:77022540-77022541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563863086	chr2:77022547-77022548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531128094	chr2:77022561-77022562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574578038	chr2:77022571-77022572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552496709	chr2:77022602-77022603	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs370615382	chr2:77022604-77022605	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77009000-77039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:77009400-77022600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:77009600-77038200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:77014200-77023800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:77021200-77025400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:77022600-77023000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:77023000-77023200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:77023000-77023400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:77023800-77024000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:77023800-77024200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:77035000-77037000	Enhancers	Fetal Lung	lung
12	chr2:77035200-77035400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:77035600-77036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:77035800-77036200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:77035800-77036200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:77036000-77036200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:77036200-77041800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:77036400-77036600	Enhancers	Fetal Kidney	kidney
19	chr2:77036600-77037000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:77036600-77038600	Weak transcription	Fetal Kidney	kidney
21	chr2:77036800-77037000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:77036800-77038400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:77037000-77038200	Weak transcription	Fetal Lung	lung
24	chr2:77037200-77038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:77038200-77039000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:77038200-77039600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:77038200-77040200	Enhancers	Fetal Lung	lung
28	chr2:77038400-77038600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:77038400-77039800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:77038600-77039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:77038600-77039400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:77038600-77039400	Enhancers	Fetal Kidney	kidney
33	chr2:77039000-77039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:77039200-77039400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:77039200-77039400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:77039200-77039600	Enhancers	Colon Smooth Muscle	Colon
37	chr2:77039400-77039600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:77039400-77042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:77039600-77039800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:77039600-77042200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:77039600-77049600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:77039800-77041800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:77040000-77041800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:77041800-77042600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:77041800-77042800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:77041800-77043400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:77042200-77042800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:77042200-77042800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:77048600-77048800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:77049400-77049600	Enhancers	Pancreatic Islets	Pancreatic Islet

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