Variant report

Variant	nsv213755
Chromosome Location	chr2:212735148-212737704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139838360	chr2:212735164-212735165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145501365	chr2:212735200-212735201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543844977	chr2:212735208-212735209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376567766	chr2:212735215-212735216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564745267	chr2:212735220-212735221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185414681	chr2:212735223-212735224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190227237	chr2:212735240-212735241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548880412	chr2:212735387-212735388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148863333	chr2:212735402-212735403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530450820	chr2:212735406-212735407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528279666	chr2:212735466-212735467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181441955	chr2:212735478-212735479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571368548	chr2:212735487-212735488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143442063	chr2:212735488-212735489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542601372	chr2:212735583-212735584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370073207	chr2:212735604-212735605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75214616	chr2:212735623-212735624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556096206	chr2:212735624-212735625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75618069	chr2:212735635-212735636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369686244	chr2:212735644-212735645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137861902	chr2:212735658-212735659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142357966	chr2:212735659-212735660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578068841	chr2:212735678-212735679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543435610	chr2:212735684-212735685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185931362	chr2:212735784-212735785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559531667	chr2:212735809-212735810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573972458	chr2:212735837-212735838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190738246	chr2:212735865-212735866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559263415	chr2:212735894-212735895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144845262	chr2:212735917-212735918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551191155	chr2:212735918-212735919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373098610	chr2:212735926-212735927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76453846	chr2:212735964-212735965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184067467	chr2:212736003-212736004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138776209	chr2:212736026-212736027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141717444	chr2:212736044-212736045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188957196	chr2:212736053-212736054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370793116	chr2:212736058-212736059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549686891	chr2:212736060-212736061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566420134	chr2:212736062-212736063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150783233	chr2:212736107-212736108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572877525	chr2:212736108-212736109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558362702	chr2:212736115-212736116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529693358	chr2:212736174-212736175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190990215	chr2:212736179-212736180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537524692	chr2:212736229-212736230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62184533	chr2:212736231-212736232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547311934	chr2:212736233-212736234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557184250	chr2:212736247-212736248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376048553	chr2:212736257-212736258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212734200-212741800	Weak transcription	HUVEC	blood vessel

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