Variant report

Variant	nsv961739
Chromosome Location	chr2:182041759-182049669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 254 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:254 , 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	rs62180190	chr2:182041830-182041831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377634134	chr2:182041879-182041880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34591989	chr2:182041896-182041897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561512751	chr2:182041900-182041901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35328912	chr2:182041920-182041921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527324561	chr2:182041921-182041922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148984870	chr2:182041924-182041925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35058494	chr2:182041931-182041932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570518274	chr2:182041935-182041936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539550185	chr2:182041958-182041959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143808780	chr2:182042021-182042022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181459309	chr2:182042027-182042028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567745641	chr2:182042038-182042039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184897824	chr2:182042042-182042043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189434270	chr2:182042057-182042058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555666808	chr2:182042082-182042083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180924042	chr2:182042149-182042150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148174038	chr2:182042192-182042193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62180191	chr2:182042287-182042288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184990541	chr2:182042305-182042306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371049272	chr2:182042370-182042371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553883448	chr2:182042399-182042400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375511581	chr2:182042404-182042405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368907580	chr2:182042415-182042416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555394666	chr2:182042429-182042430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140088088	chr2:182042436-182042437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4305233	chr2:182042445-182042446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146941007	chr2:182042475-182042476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191018294	chr2:182042491-182042492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76858904	chr2:182042561-182042562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376340772	chr2:182042605-182042606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527983452	chr2:182042642-182042643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181843204	chr2:182042667-182042668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35318069	chr2:182042733-182042734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564084499	chr2:182042747-182042748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568706687	chr2:182042764-182042765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112117501	chr2:182042765-182042766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549928825	chr2:182042798-182042799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569848637	chr2:182042827-182042828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535679742	chr2:182042848-182042849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549002528	chr2:182042891-182042892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565919982	chr2:182042896-182042897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534621945	chr2:182042908-182042909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13031976	chr2:182042947-182042948	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573915625	chr2:182042990-182042991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539531241	chr2:182043021-182043022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147171171	chr2:182043055-182043056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117943285	chr2:182043088-182043089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7600236	chr2:182043094-182043095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138581315	chr2:182043136-182043137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182031800-182050400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:182032400-182048400	Weak transcription	Fetal Thymus	thymus
3	chr2:182035200-182042800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:182035200-182044800	Weak transcription	Dnd41	blood
5	chr2:182035200-182048800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:182036400-182042600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:182038400-182043200	Enhancers	HSMMtube	muscle
8	chr2:182039600-182044000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:182040400-182041800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:182040400-182042600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:182040400-182042600	Weak transcription	GM12878-XiMat	blood
12	chr2:182040400-182042800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:182041000-182045200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:182041200-182041800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:182041200-182043800	Enhancers	Primary T cells from cord blood	blood
16	chr2:182041400-182042000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:182041400-182042800	Enhancers	HSMM	muscle
18	chr2:182041400-182043800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:182041400-182044000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:182041600-182043800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:182041600-182045200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:182041800-182043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:182042000-182042400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:182042400-182045000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:182042600-182042800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:182042600-182043800	Enhancers	GM12878-XiMat	blood
27	chr2:182042600-182044600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:182042800-182043200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:182042800-182044000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:182042800-182044200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:182043200-182043600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:182043800-182048400	Weak transcription	GM12878-XiMat	blood
33	chr2:182043800-182053200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:182044000-182045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:182044000-182054400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:182044000-182055400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:182044200-182044800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:182044400-182044600	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:182044600-182044800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:182044600-182048800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:182044800-182045000	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:182044800-182045000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:182044800-182045400	ZNF genes & repeats	Dnd41	blood
44	chr2:182045000-182045400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:182045000-182050600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:182045000-182053400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:182045000-182053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:182045200-182047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:182045400-182062000	Weak transcription	Dnd41	blood
50	chr2:182047800-182049200	Enhancers	Primary T helper cells PMA-I stimulated	--

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