Variant report

Variant	esv3459830
Chromosome Location	chr2:151686686-151687898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556691900	chr2:151686687-151686688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568785475	chr2:151686694-151686695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188546283	chr2:151686702-151686703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563168308	chr2:151686715-151686716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539394789	chr2:151686732-151686733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113946411	chr2:151686772-151686773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34342568	chr2:151686810-151686811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531618384	chr2:151686821-151686822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143339338	chr2:151686854-151686855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559600019	chr2:151686917-151686918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559463521	chr2:151686921-151686922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540456196	chr2:151686925-151686926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184187590	chr2:151686946-151686947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72858553	chr2:151686998-151686999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6750449	chr2:151686999-151687000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571115136	chr2:151687027-151687028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188591331	chr2:151687034-151687035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567862108	chr2:151687039-151687040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536800964	chr2:151687057-151687058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148212954	chr2:151687101-151687102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572216608	chr2:151687110-151687111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369410392	chr2:151687137-151687138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150809465	chr2:151687153-151687154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534690561	chr2:151687217-151687218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557500827	chr2:151687291-151687292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540152256	chr2:151687300-151687301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71415112	chr2:151687304-151687305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117061395	chr2:151687443-151687444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142753894	chr2:151687461-151687462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556798975	chr2:151687463-151687464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542263281	chr2:151687480-151687481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74611327	chr2:151687516-151687517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542461432	chr2:151687542-151687543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76798253	chr2:151687591-151687592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528613561	chr2:151687592-151687593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545450955	chr2:151687593-151687594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565157326	chr2:151687595-151687596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530887161	chr2:151687596-151687597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551304268	chr2:151687597-151687598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6738258	chr2:151687598-151687599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530412427	chr2:151687629-151687630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546123174	chr2:151687750-151687751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181064765	chr2:151687760-151687761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547242455	chr2:151687769-151687770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111360607	chr2:151687787-151687788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139447800	chr2:151687794-151687795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112304287	chr2:151687810-151687811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571166777	chr2:151687817-151687818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376378018	chr2:151687825-151687826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78702639	chr2:151687835-151687836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151685800-151687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:151686600-151686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:151686800-151688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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