Variant report

Variant	esv3333375
Chromosome Location	chr2:39411398-39413796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39408988..39410590-chr2:39410737..39413194,2	K562	blood:
2	chr2:39410714..39412628-chr2:39417089..39419246,2	MCF-7	breast:
3	chr2:39406380..39409047-chr2:39409138..39411647,2	MCF-7	breast:
4	chr2:39401314..39403351-chr2:39411606..39413142,2	K562	blood:
5	chr2:39411786..39413568-chr2:39436502..39439076,2	MCF-7	breast:

Extended variants
information (count: 144 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557821882	chr2:39411402-39411403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148887998	chr2:39411414-39411415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375149349	chr2:39411428-39411429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530226093	chr2:39411444-39411445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548140466	chr2:39411455-39411456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377603692	chr2:39411456-39411457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184781991	chr2:39411463-39411464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527977145	chr2:39411550-39411551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34066418	chr2:39411658-39411659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561615716	chr2:39411660-39411661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190029328	chr2:39411679-39411680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538085230	chr2:39411709-39411710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376288885	chr2:39411711-39411712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372022773	chr2:39411731-39411732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199611997	chr2:39411734-39411735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535538141	chr2:39411752-39411753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553799423	chr2:39411765-39411766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112831085	chr2:39411773-39411774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140565939	chr2:39411778-39411779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367626065	chr2:39411791-39411792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371455756	chr2:39411821-39411822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181555257	chr2:39411857-39411858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141702509	chr2:39411863-39411864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199817385	chr2:39411864-39411865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546101255	chr2:39411870-39411871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529064785	chr2:39411883-39411884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200978354	chr2:39411887-39411888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143603159	chr2:39411894-39411895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79049572	chr2:39411895-39411896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74643987	chr2:39411897-39411898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80001907	chr2:39411899-39411900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76649856	chr2:39411900-39411901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543216731	chr2:39411988-39411989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561931350	chr2:39411989-39411990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573592990	chr2:39412174-39412175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201572028	chr2:39412249-39412250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540722452	chr2:39412260-39412261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11900707	chr2:39412262-39412263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148068488	chr2:39412268-39412269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574266293	chr2:39412271-39412272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199846669	chr2:39412279-39412280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527714392	chr2:39412306-39412307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552431424	chr2:39412309-39412310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11884986	chr2:39412316-39412317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571029853	chr2:39412318-39412319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532047715	chr2:39412320-39412321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186214925	chr2:39412321-39412322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150091457	chr2:39412322-39412323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7588263	chr2:39412348-39412349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545728692	chr2:39412351-39412352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39401800-39422600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:39405400-39415800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:39406200-39429800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:39410200-39413600	Weak transcription	HSMM	muscle
5	chr2:39411000-39423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:39411000-39423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:39411000-39448400	Weak transcription	HSMMtube	muscle

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