Variant report

Variant	esv3439192
Chromosome Location	chr2:141146332-141148530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544581706	chr2:141146348-141146349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564855789	chr2:141146403-141146404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577698687	chr2:141146418-141146419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572273214	chr2:141146441-141146442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181625520	chr2:141146461-141146462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76446966	chr2:141146502-141146503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529848290	chr2:141146535-141146536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186053140	chr2:141146536-141146537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117868025	chr2:141146596-141146597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1518439	chr2:141146597-141146598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs5834742	chr2:141146700-141146701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560499004	chr2:141146701-141146702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572605344	chr2:141146702-141146703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146375373	chr2:141146766-141146767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116271572	chr2:141146774-141146775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16843894	chr2:141146781-141146782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569328173	chr2:141146868-141146869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371534875	chr2:141146884-141146885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536599956	chr2:141146912-141146913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191375676	chr2:141146917-141146918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567889465	chr2:141146932-141146933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536426547	chr2:141146970-141146971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551185027	chr2:141146979-141146980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555866712	chr2:141147058-141147059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546307102	chr2:141147087-141147088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575701767	chr2:141147156-141147157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538265273	chr2:141147175-141147176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57938125	chr2:141147211-141147212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139855398	chr2:141147214-141147215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114759563	chr2:141147239-141147240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142083416	chr2:141147314-141147315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372614825	chr2:141147315-141147316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529590673	chr2:141147326-141147327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71408454	chr2:141147328-141147329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562029969	chr2:141147336-141147337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574610074	chr2:141147340-141147341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543621303	chr2:141147348-141147349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562994105	chr2:141147358-141147359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183187433	chr2:141147394-141147395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369356436	chr2:141147405-141147406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550703495	chr2:141147416-141147417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527675484	chr2:141147423-141147424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548102033	chr2:141147427-141147428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567838967	chr2:141147472-141147473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534414413	chr2:141147509-141147510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187715959	chr2:141147542-141147543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549925479	chr2:141147543-141147544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569424084	chr2:141147553-141147554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35682894	chr2:141147580-141147581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113980391	chr2:141147581-141147582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141142800-141151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:141148000-141150600	Enhancers	A549	lung

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