Variant report

Variant	nsv516465
Chromosome Location	chr2:35061211-35073607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:

Extended variants
information (count: 593 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs280715	chr2:35061211-35061212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557539570	chr2:35061239-35061240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371959167	chr2:35061240-35061241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544060887	chr2:35061285-35061286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34006158	chr2:35061415-35061416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573964094	chr2:35061437-35061438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532658736	chr2:35061455-35061456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546821243	chr2:35061493-35061494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183693792	chr2:35061511-35061512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559708455	chr2:35061557-35061558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188822490	chr2:35061569-35061570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181253986	chr2:35061578-35061579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367635895	chr2:35061594-35061595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568054990	chr2:35061601-35061602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530604851	chr2:35061632-35061633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141637024	chr2:35061667-35061668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150518448	chr2:35061676-35061677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539528009	chr2:35061683-35061684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552647339	chr2:35061691-35061692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79084660	chr2:35061702-35061703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535483162	chr2:35061711-35061712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555283618	chr2:35061750-35061751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575235963	chr2:35061761-35061762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557316681	chr2:35061798-35061799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139610390	chr2:35061802-35061803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552394506	chr2:35061833-35061834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149757266	chr2:35061839-35061840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184719491	chr2:35061899-35061900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190007097	chr2:35061911-35061912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181638049	chr2:35061917-35061918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559637667	chr2:35061929-35061930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572891969	chr2:35061932-35061933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79611920	chr2:35061941-35061942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115973553	chr2:35061954-35061955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77511964	chr2:35061955-35061956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187271899	chr2:35061956-35061957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192175027	chr2:35061957-35061958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147401698	chr2:35062011-35062012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546663531	chr2:35062018-35062019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34315274	chr2:35062022-35062023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566605138	chr2:35062036-35062037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139671555	chr2:35062082-35062083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28767616	chr2:35062099-35062100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535007382	chr2:35062104-35062105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144695782	chr2:35062167-35062168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377426205	chr2:35062172-35062173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568734487	chr2:35062176-35062177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147908190	chr2:35062218-35062219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552498274	chr2:35062240-35062241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577366490	chr2:35062251-35062252	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
Autism	22495311	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	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35057200-35080400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:35069200-35069400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:35069400-35071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:35069600-35070400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:35069800-35070200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:35070000-35070200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:35070200-35070400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:35070200-35070400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:35070200-35071400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:35070400-35071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:35070400-35071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:35071000-35072000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:35071400-35072200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:35071600-35072000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:35071600-35072000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:35071800-35072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:35073000-35075600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:35073000-35075800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:35073000-35075800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:35073200-35075200	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links