Variant report

Variant	nsv964354
Chromosome Location	chr2:212500329-212503319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529744373	chr2:212500375-212500376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368962078	chr2:212500376-212500377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147230525	chr2:212500402-212500403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367978003	chr2:212500405-212500406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560124101	chr2:212500447-212500448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528677274	chr2:212500469-212500470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577766239	chr2:212500541-212500542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536561488	chr2:212500583-212500584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374070191	chr2:212500619-212500620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547766797	chr2:212500723-212500724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571736748	chr2:212500730-212500731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530910779	chr2:212500768-212500769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138402372	chr2:212500779-212500780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6706867	chr2:212500790-212500791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67127866	chr2:212500826-212500827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546121292	chr2:212500834-212500835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202176757	chr2:212500835-212500836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551101500	chr2:212500836-212500837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28494172	chr2:212500840-212500841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6722280	chr2:212500841-212500842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575014872	chr2:212500842-212500843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546465880	chr2:212500847-212500848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566449669	chr2:212500856-212500857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538408664	chr2:212500904-212500905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10203821	chr2:212500945-212500946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574950422	chr2:212501085-212501086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537544711	chr2:212501094-212501095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554691568	chr2:212501108-212501109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189331323	chr2:212501140-212501141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142782383	chr2:212501158-212501159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560062037	chr2:212501265-212501266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181671326	chr2:212501325-212501326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75216508	chr2:212501363-212501364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371980004	chr2:212501370-212501371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561308546	chr2:212501371-212501372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531175404	chr2:212501413-212501414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572089138	chr2:212501491-212501492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148761172	chr2:212501555-212501556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561460575	chr2:212501575-212501576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530011962	chr2:212501593-212501594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546602958	chr2:212501597-212501598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528411691	chr2:212501653-212501654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75803511	chr2:212501659-212501660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546876614	chr2:212501694-212501695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7576417	chr2:212501712-212501713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147411201	chr2:212501758-212501759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73988624	chr2:212501771-212501772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377586105	chr2:212501780-212501781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554347173	chr2:212501782-212501783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574498038	chr2:212501798-212501799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
2	chr2:212488400-212502800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212502600-212503400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:212502800-212503600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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