Variant report

Variant	nsv874028
Chromosome Location	chr2:49913955-49962090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
2	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:
3	chr2:49946532..49948870-chr2:49954270..49956341,2	K562	blood:
4	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:
5	chr2:49939308..49942283-chr2:49943877..49945458,2	MCF-7	breast:

Extended variants
information (count: 477 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562071985	chr2:49914202-49914203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535018769	chr2:49914212-49914213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529511198	chr2:49914217-49914218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550170399	chr2:49914228-49914229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562298964	chr2:49914253-49914254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532940223	chr2:49914254-49914255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551230759	chr2:49914255-49914256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566547939	chr2:49914258-49914259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556034664	chr2:49914262-49914263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377127966	chr2:49914275-49914276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191536563	chr2:49914292-49914293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555058645	chr2:49914347-49914348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549174583	chr2:49914358-49914359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146082102	chr2:49914370-49914371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116581502	chr2:49914424-49914425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370974627	chr2:49914445-49914446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113908454	chr2:49914507-49914508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34703032	chr2:49914522-49914523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557325283	chr2:49914526-49914527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542675375	chr2:49914531-49914532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548730361	chr2:49914547-49914548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575594552	chr2:49914557-49914558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184063671	chr2:49914596-49914597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558004616	chr2:49914638-49914639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190153984	chr2:49914667-49914668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17039178	chr2:49914685-49914686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542012393	chr2:49914733-49914734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573997824	chr2:49914833-49914834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563588943	chr2:49914836-49914837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563189699	chr2:49914851-49914852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181858374	chr2:49914859-49914860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551337750	chr2:49914870-49914871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560014628	chr2:49914899-49914900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531064066	chr2:49914900-49914901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17180439	chr2:49914910-49914911	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs567424495	chr2:49914911-49914912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538037088	chr2:49914943-49914944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371432433	chr2:49914951-49914952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549850032	chr2:49914978-49914979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571504719	chr2:49915005-49915006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539478390	chr2:49915019-49915020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558104537	chr2:49915038-49915039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573009539	chr2:49915059-49915060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533982782	chr2:49915171-49915172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565134119	chr2:49915204-49915205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187338999	chr2:49915218-49915219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573935301	chr2:49915223-49915224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190562056	chr2:49915302-49915303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563064896	chr2:49915311-49915312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578173766	chr2:49915337-49915338	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49914200-49915800	Enhancers	Fetal Brain Male	brain
2	chr2:49939000-49939800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:49939600-49939800	Enhancers	Right Ventricle	heart
4	chr2:49939800-49943000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:49940200-49941600	Weak transcription	Right Ventricle	heart
6	chr2:49941000-49941400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:49941200-49941800	Enhancers	Gastric	stomach
8	chr2:49941200-49941800	ZNF genes & repeats	Pancreas	Pancrea
9	chr2:49941400-49945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:49941600-49941800	Enhancers	Right Ventricle	heart
11	chr2:49941600-49942000	Enhancers	Stomach Mucosa	stomach
12	chr2:49941800-49943000	Weak transcription	Gastric	stomach
13	chr2:49941800-49943000	Weak transcription	Pancreas	Pancrea
14	chr2:49941800-49943400	Weak transcription	Right Ventricle	heart
15	chr2:49942000-49943000	Weak transcription	Stomach Mucosa	stomach
16	chr2:49943000-49943800	Enhancers	Gastric	stomach
17	chr2:49943000-49943800	Enhancers	Pancreas	Pancrea
18	chr2:49943000-49943800	Enhancers	Stomach Mucosa	stomach
19	chr2:49943000-49944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:49943400-49943800	Enhancers	Right Ventricle	heart
21	chr2:49945200-49947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:49946200-49946600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:49946400-49947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:49946600-49946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:49946800-49947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:49947000-49947200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:49947200-49948000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:49961400-49962200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:49961600-49962200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:49961600-49963400	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links