Variant report

Variant	esv3403968
Chromosome Location	chr4:30279781-30280253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369983595	chr4:30279782-30279783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372082550	chr4:30279783-30279784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200009554	chr4:30279789-30279790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573630417	chr4:30279791-30279792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542613518	chr4:30279792-30279793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77996799	chr4:30279797-30279798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559048537	chr4:30279798-30279799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80261706	chr4:30279799-30279800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528030916	chr4:30279800-30279801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541323394	chr4:30279801-30279802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564368316	chr4:30279805-30279806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77144188	chr4:30279808-30279809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374967239	chr4:30279809-30279810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572296850	chr4:30279815-30279816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373913662	chr4:30279816-30279817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529328354	chr4:30279817-30279818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549397119	chr4:30279818-30279819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75521855	chr4:30279823-30279824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74472267	chr4:30279825-30279826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565935887	chr4:30279827-30279828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147894969	chr4:30279834-30279835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369019609	chr4:30279835-30279836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571529148	chr4:30279838-30279839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77032856	chr4:30279841-30279842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557148835	chr4:30279842-30279843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140851888	chr4:30279843-30279844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573690712	chr4:30279849-30279850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75803336	chr4:30279851-30279852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77862701	chr4:30279853-30279854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572728883	chr4:30279855-30279856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372924174	chr4:30279862-30279863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377216861	chr4:30279863-30279864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533400972	chr4:30279866-30279867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79245858	chr4:30279869-30279870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571605777	chr4:30279870-30279871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563720742	chr4:30279873-30279874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376359204	chr4:30279877-30279878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79740630	chr4:30279879-30279880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78630561	chr4:30279881-30279882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566097139	chr4:30279883-30279884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369554793	chr4:30279890-30279891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372999363	chr4:30279891-30279892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571570907	chr4:30279892-30279893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537303339	chr4:30279894-30279895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557234918	chr4:30279898-30279899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55695319	chr4:30279899-30279900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536376088	chr4:30279901-30279902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552778218	chr4:30279902-30279903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572861561	chr4:30279907-30279908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538250895	chr4:30279911-30279912	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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