Variant report

Variant	esv3464362
Chromosome Location	chr4:30279908-30280323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538250895	chr4:30279911-30279912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558089095	chr4:30279918-30279919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577957703	chr4:30279919-30279920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543702403	chr4:30279922-30279923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563933002	chr4:30279926-30279927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574134448	chr4:30279927-30279928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543169193	chr4:30279929-30279930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534484366	chr4:30279986-30279987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559611679	chr4:30280002-30280003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528551607	chr4:30280003-30280004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557924201	chr4:30280014-30280015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551810667	chr4:30280019-30280020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565272638	chr4:30280023-30280024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61794116	chr4:30280030-30280031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61794117	chr4:30280031-30280032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530875842	chr4:30280034-30280035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550580219	chr4:30280042-30280043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567488992	chr4:30280047-30280048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536073773	chr4:30280051-30280052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370484309	chr4:30280058-30280059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546746326	chr4:30280059-30280060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566239030	chr4:30280062-30280063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538336898	chr4:30280066-30280067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558176819	chr4:30280070-30280071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574870434	chr4:30280075-30280076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374475138	chr4:30280086-30280087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537380930	chr4:30280087-30280088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557383134	chr4:30280090-30280091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574245180	chr4:30280094-30280095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542853145	chr4:30280095-30280096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559861029	chr4:30280096-30280097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573417553	chr4:30280108-30280109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536416176	chr4:30280113-30280114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185410009	chr4:30280116-30280117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576013618	chr4:30280119-30280120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189343938	chr4:30280127-30280128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191174750	chr4:30280131-30280132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183673226	chr4:30280140-30280141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540905847	chr4:30280143-30280144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188289595	chr4:30280144-30280145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563157898	chr4:30280150-30280151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560823027	chr4:30280151-30280152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369135496	chr4:30280154-30280155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373831415	chr4:30280155-30280156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374282977	chr4:30280156-30280157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377612143	chr4:30280157-30280158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371293919	chr4:30280159-30280160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375430229	chr4:30280160-30280161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374736767	chr4:30280162-30280163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74332926	chr4:30280164-30280165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30277800-30280400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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