Variant report

Variant	nsv962096
Chromosome Location	chr2:211238120-211250354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 275 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557721997	chr2:211238126-211238127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4338912	chr2:211238151-211238152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs113971975	chr2:211238154-211238155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184197942	chr2:211238165-211238166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13023699	chr2:211238204-211238205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13000495	chr2:211238213-211238214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13000502	chr2:211238217-211238218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572857328	chr2:211238229-211238230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1350464	chr2:211238290-211238291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs375523382	chr2:211238294-211238295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574926204	chr2:211238303-211238304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140355301	chr2:211238305-211238306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560892581	chr2:211238361-211238362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529828912	chr2:211238566-211238567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546349161	chr2:211238570-211238571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57726246	chr2:211238605-211238606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528557172	chr2:211238606-211238607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551600141	chr2:211238611-211238612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571601531	chr2:211238619-211238620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537470390	chr2:211238637-211238638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112995517	chr2:211238664-211238665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13404188	chr2:211238678-211238679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs557480838	chr2:211238714-211238715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536958600	chr2:211238786-211238787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553486597	chr2:211238807-211238808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377117032	chr2:211238821-211238822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573381675	chr2:211238880-211238881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61479752	chr2:211238883-211238884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143689178	chr2:211238922-211238923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574888605	chr2:211238943-211238944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188555741	chr2:211238957-211238958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62202075	chr2:211239001-211239002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541638291	chr2:211239023-211239024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113909045	chr2:211239113-211239114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574343256	chr2:211239149-211239150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540177732	chr2:211239176-211239177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560261234	chr2:211239209-211239210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62202076	chr2:211239244-211239245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545463144	chr2:211239251-211239252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62202077	chr2:211239260-211239261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530921631	chr2:211239268-211239269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550956146	chr2:211239274-211239275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567668055	chr2:211239293-211239294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75521281	chr2:211239312-211239313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547010560	chr2:211239318-211239319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76036064	chr2:211239353-211239354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62202078	chr2:211239367-211239368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558608782	chr2:211239375-211239376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200292632	chr2:211239384-211239385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568571711	chr2:211239408-211239409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211223000-211242800	Weak transcription	Psoas Muscle	Psoas
2	chr2:211235600-211242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:211235800-211241000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:211238000-211241000	Weak transcription	HSMMtube	muscle
5	chr2:211241000-211241200	Enhancers	HSMMtube	muscle
6	chr2:211241000-211242000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:211241000-211242000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:211241200-211241600	Weak transcription	HSMMtube	muscle
9	chr2:211241600-211242200	Enhancers	HSMMtube	muscle
10	chr2:211242600-211243000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:211242800-211243000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:211242800-211243000	Enhancers	Psoas Muscle	Psoas
13	chr2:211243000-211244000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:211244000-211244200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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