Variant report

Variant	esv1001097
Chromosome Location	chr4:30466919-30477116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541457622	chr4:30475609-30475610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146715606	chr4:30475636-30475637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73216839	chr4:30475655-30475656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530542369	chr4:30475657-30475658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183452980	chr4:30475660-30475661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564316059	chr4:30475675-30475676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541388035	chr4:30475680-30475681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531371545	chr4:30475681-30475682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73216840	chr4:30475688-30475689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568307767	chr4:30475706-30475707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187768520	chr4:30475709-30475710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77330096	chr4:30475755-30475756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1473093	chr4:30475794-30475795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192234931	chr4:30475804-30475805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539930257	chr4:30475805-30475806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145184643	chr4:30475830-30475831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147198094	chr4:30475852-30475853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140581832	chr4:30475859-30475860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112664149	chr4:30475914-30475915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374642905	chr4:30475915-30475916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555625022	chr4:30475947-30475948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73109968	chr4:30475969-30475970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76154182	chr4:30475995-30475996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556542385	chr4:30476031-30476032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575211524	chr4:30476049-30476050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533201912	chr4:30476058-30476059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184620350	chr4:30476114-30476115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144494139	chr4:30476119-30476120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56353087	chr4:30476145-30476146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1473094	chr4:30476154-30476155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189537315	chr4:30476197-30476198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201920687	chr4:30476255-30476256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34018056	chr4:30476256-30476257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80235570	chr4:30476257-30476258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535639156	chr4:30476270-30476271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575752579	chr4:30476271-30476272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57745321	chr4:30476272-30476273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191873182	chr4:30476368-30476369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374938016	chr4:30476401-30476402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550950066	chr4:30476535-30476536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73216841	chr4:30476545-30476546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113075433	chr4:30476605-30476606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10032543	chr4:30476619-30476620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568447584	chr4:30476638-30476639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76616063	chr4:30476640-30476641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2175559	chr4:30476685-30476686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534368077	chr4:30476690-30476691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184173402	chr4:30476704-30476705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373974413	chr4:30476750-30476751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148821300	chr4:30476756-30476757	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30475600-30476200	Enhancers	Brain Hippocampus Middle	brain
2	chr4:30475600-30477200	Enhancers	GM12878-XiMat	blood

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