Variant report

Variant	nsv980985
Chromosome Location	chr5:90975739-90979312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541770868	chr5:90975876-90975877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370031640	chr5:90975939-90975940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545678363	chr5:90976020-90976021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2935250	chr5:90976069-90976070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532406221	chr5:90976120-90976121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572948335	chr5:90976130-90976131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139636352	chr5:90976166-90976167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561588224	chr5:90976171-90976172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192240485	chr5:90976177-90976178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530642949	chr5:90976265-90976266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144489952	chr5:90976286-90976287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115803472	chr5:90976298-90976299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147845045	chr5:90976306-90976307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547312984	chr5:90976330-90976331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139909560	chr5:90976364-90976365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535636632	chr5:90976371-90976372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549572694	chr5:90976373-90976374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368108379	chr5:90976389-90976390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538315547	chr5:90976399-90976400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557865774	chr5:90976406-90976407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145345845	chr5:90976430-90976431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145291130	chr5:90976467-90976468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188271594	chr5:90976488-90976489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552800001	chr5:90976501-90976502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573101675	chr5:90976522-90976523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545692437	chr5:90976524-90976525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541623981	chr5:90976536-90976537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562684169	chr5:90976559-90976560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530937521	chr5:90976602-90976603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10474364	chr5:90976614-90976615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549578898	chr5:90976670-90976671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544307008	chr5:90976756-90976757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184586194	chr5:90976852-90976853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200427928	chr5:90976870-90976871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3929461	chr5:90976881-90976882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2914022	chr5:90976883-90976884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2939241	chr5:90976885-90976886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189419648	chr5:90976887-90976888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181469343	chr5:90976912-90976913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549440723	chr5:90976984-90976985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569418664	chr5:90977034-90977035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538091312	chr5:90977035-90977036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539285853	chr5:90977036-90977037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35840522	chr5:90977053-90977054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113119203	chr5:90977065-90977066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2914021	chr5:90977079-90977080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115219386	chr5:90977083-90977084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140652066	chr5:90977163-90977164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535715228	chr5:90977169-90977170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79440116	chr5:90977195-90977196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90975800-90976200	Enhancers	Fetal Heart	heart
2	chr5:90976000-90976400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:90976200-90979000	Weak transcription	Fetal Heart	heart
4	chr5:90976400-90979200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:90978600-90979000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:90979000-90980200	Enhancers	Fetal Heart	heart
7	chr5:90979200-90979800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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