Variant report

Variant	nsv963772
Chromosome Location	chr2:212162262-212163802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERBB4-1	chr2:212163666-212163914	NONHSAT076685

Extended variants
information (count: 66 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377750677	chr2:212162277-212162278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147955030	chr2:212162285-212162286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373402025	chr2:212162306-212162307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114009721	chr2:212162460-212162461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367772821	chr2:212162540-212162541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10199316	chr2:212162567-212162568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554480368	chr2:212162597-212162598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567980590	chr2:212162603-212162604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7605116	chr2:212162678-212162679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182824400	chr2:212162705-212162706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553684107	chr2:212162725-212162726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141907942	chr2:212162745-212162746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539566221	chr2:212162749-212162750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150450177	chr2:212162823-212162824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575943047	chr2:212162905-212162906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79633228	chr2:212162925-212162926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145371914	chr2:212162930-212162931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187105261	chr2:212162940-212162941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113140001	chr2:212162980-212162981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191661188	chr2:212162995-212162996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149196002	chr2:212163037-212163038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532400789	chr2:212163038-212163039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552670823	chr2:212163039-212163040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562828694	chr2:212163076-212163077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531418513	chr2:212163098-212163099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367689380	chr2:212163099-212163100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528024385	chr2:212163127-212163128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4550605	chr2:212163141-212163142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs533797297	chr2:212163148-212163149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547370072	chr2:212163186-212163187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138592470	chr2:212163195-212163196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530413134	chr2:212163213-212163214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183116579	chr2:212163217-212163218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556239350	chr2:212163266-212163267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571071497	chr2:212163268-212163269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369887906	chr2:212163282-212163283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111904578	chr2:212163341-212163342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375223859	chr2:212163351-212163352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555158829	chr2:212163371-212163372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575074865	chr2:212163372-212163373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540970140	chr2:212163397-212163398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187611570	chr2:212163410-212163411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577205135	chr2:212163424-212163425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7606138	chr2:212163426-212163427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192630591	chr2:212163429-212163430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113065264	chr2:212163442-212163443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547991419	chr2:212163451-212163452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10497932	chr2:212163453-212163454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113381943	chr2:212163480-212163481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535479750	chr2:212163516-212163517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212159600-212166800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:212163600-212164000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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