Variant report

Variant	nsv963593
Chromosome Location	chr4:21509366-21510666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187061005	chr4:21509390-21509391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528758426	chr4:21509396-21509397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34515987	chr4:21509437-21509438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546194938	chr4:21509439-21509440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137940711	chr4:21509455-21509456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11732183	chr4:21509483-21509484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569034914	chr4:21509497-21509498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568838974	chr4:21509576-21509577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191826993	chr4:21509621-21509622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533980145	chr4:21509641-21509642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36018425	chr4:21509694-21509695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554794502	chr4:21509720-21509721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16871284	chr4:21509725-21509726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140971666	chr4:21509742-21509743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370304850	chr4:21509762-21509763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112951494	chr4:21509766-21509767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377004020	chr4:21509774-21509775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577932318	chr4:21509783-21509784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11737456	chr4:21509796-21509797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557454541	chr4:21509804-21509805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57649189	chr4:21509838-21509839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146980193	chr4:21509863-21509864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184372252	chr4:21509869-21509870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542862414	chr4:21509900-21509901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56753617	chr4:21509910-21509911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537709751	chr4:21509958-21509959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144798131	chr4:21509971-21509972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1460481	chr4:21509972-21509973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189075931	chr4:21509990-21509991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193087350	chr4:21509998-21509999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532161163	chr4:21510000-21510001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1460480	chr4:21510003-21510004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185830017	chr4:21510013-21510014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116519182	chr4:21510019-21510020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1460479	chr4:21510036-21510037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138631255	chr4:21510070-21510071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189096795	chr4:21510100-21510101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534095927	chr4:21510106-21510107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367894229	chr4:21510176-21510177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180782568	chr4:21510197-21510198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116630145	chr4:21510233-21510234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368525911	chr4:21510283-21510284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575338637	chr4:21510305-21510306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149332581	chr4:21510329-21510330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146888422	chr4:21510352-21510353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373361835	chr4:21510354-21510355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553618635	chr4:21510361-21510362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554760451	chr4:21510374-21510375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16871286	chr4:21510395-21510396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs13124356	chr4:21510407-21510408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21497000-21514200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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