Variant report

Variant	esv3464361
Chromosome Location	chr4:30278679-30281427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547466710	chr4:30278777-30278778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570386982	chr4:30278779-30278780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377563831	chr4:30278787-30278788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549775743	chr4:30278811-30278812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569575432	chr4:30278847-30278848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78683567	chr4:30278888-30278889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554906779	chr4:30278894-30278895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568639061	chr4:30278915-30278916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534064080	chr4:30278935-30278936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367889898	chr4:30279092-30279093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554221266	chr4:30279103-30279104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576890693	chr4:30279112-30279113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565580162	chr4:30279120-30279121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75977558	chr4:30279171-30279172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556090882	chr4:30279257-30279258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528372061	chr4:30279259-30279260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148446129	chr4:30279260-30279261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542096928	chr4:30279279-30279280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561780961	chr4:30279305-30279306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572184312	chr4:30279308-30279309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73223751	chr4:30279329-30279330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189657507	chr4:30279331-30279332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73223752	chr4:30279335-30279336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533012815	chr4:30279336-30279337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540967293	chr4:30279381-30279382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182363968	chr4:30279390-30279391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563266397	chr4:30279417-30279418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548844678	chr4:30279430-30279431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187032871	chr4:30279458-30279459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534417597	chr4:30279516-30279517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547644951	chr4:30279518-30279519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570613279	chr4:30279520-30279521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142605033	chr4:30279532-30279533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368951575	chr4:30279572-30279573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148703678	chr4:30279586-30279587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556178795	chr4:30279627-30279628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576024173	chr4:30279630-30279631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200210754	chr4:30279631-30279632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191716378	chr4:30279636-30279637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116585421	chr4:30279637-30279638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114015171	chr4:30279639-30279640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112416727	chr4:30279646-30279647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199779528	chr4:30279653-30279654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144776177	chr4:30279658-30279659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374637751	chr4:30279659-30279660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140978500	chr4:30279664-30279665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113737217	chr4:30279668-30279669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184984851	chr4:30279674-30279675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113350078	chr4:30279675-30279676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541224711	chr4:30279680-30279681	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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