Variant report

Variant	nsv961005
Chromosome Location	chr2:212696190-212697036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183023903	chr2:212696192-212696193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186306355	chr2:212696219-212696220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377651460	chr2:212696265-212696266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74374692	chr2:212696340-212696341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77983612	chr2:212696347-212696348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548634779	chr2:212696394-212696395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532252107	chr2:212696400-212696401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191546205	chr2:212696438-212696439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545443577	chr2:212696452-212696453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183325019	chr2:212696472-212696473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531230717	chr2:212696485-212696486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551338663	chr2:212696489-212696490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567845599	chr2:212696496-212696497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187437186	chr2:212696501-212696502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530346158	chr2:212696537-212696538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192342415	chr2:212696583-212696584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200402104	chr2:212696593-212696594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201400314	chr2:212696615-212696616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5838287	chr2:212696628-212696629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144633208	chr2:212696637-212696638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539124493	chr2:212696659-212696660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371110707	chr2:212696681-212696682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558676553	chr2:212696741-212696742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146700848	chr2:212696742-212696743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537730815	chr2:212696748-212696749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183249375	chr2:212696802-212696803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187942366	chr2:212696845-212696846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140214641	chr2:212696874-212696875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192281126	chr2:212696898-212696899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13426904	chr2:212696949-212696950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4673636	chr2:212696953-212696954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562336518	chr2:212696973-212696974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145278691	chr2:212696987-212696988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544898824	chr2:212697008-212697009	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	chr2:212692200-212697800	Weak transcription	Fetal Heart	heart

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