Variant report

Variant	esv3498727
Chromosome Location	chr4:30056804-30058902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:30055206..30057309-chr4:30063037..30065592,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186378867	chr4:30057024-30057025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550866613	chr4:30057066-30057067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191577499	chr4:30057104-30057105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529901919	chr4:30057116-30057117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147194059	chr4:30057150-30057151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566656506	chr4:30057167-30057168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140569917	chr4:30057183-30057184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565861053	chr4:30057196-30057197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181543843	chr4:30057203-30057204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575880922	chr4:30057248-30057249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376632958	chr4:30057313-30057314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537404486	chr4:30057328-30057329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557639755	chr4:30057348-30057349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369630742	chr4:30057378-30057379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149743301	chr4:30057391-30057392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536541707	chr4:30057406-30057407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553182536	chr4:30057462-30057463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573076769	chr4:30057494-30057495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185965147	chr4:30057499-30057500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545117896	chr4:30057528-30057529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565198580	chr4:30057539-30057540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575601841	chr4:30057540-30057541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544231871	chr4:30057578-30057579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561330967	chr4:30057593-30057594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58336842	chr4:30057594-30057595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546895298	chr4:30057595-30057596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144650091	chr4:30057602-30057603	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547625828	chr4:30057614-30057615	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532313349	chr4:30057660-30057661	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536839751	chr4:30057666-30057667	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554714698	chr4:30057691-30057692	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs148397216	chr4:30057697-30057698	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537946001	chr4:30057754-30057755	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547920696	chr4:30057828-30057829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543770123	chr4:30057842-30057843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568030108	chr4:30057848-30057849	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557556572	chr4:30057910-30057911	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553221287	chr4:30057911-30057912	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573115101	chr4:30057990-30057991	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190821314	chr4:30057991-30057992	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183346366	chr4:30058024-30058025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142518513	chr4:30058039-30058040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544683191	chr4:30058041-30058042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546448136	chr4:30058086-30058087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561153303	chr4:30058109-30058110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574857314	chr4:30058121-30058122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559475078	chr4:30058133-30058134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540550040	chr4:30058141-30058142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560449743	chr4:30058151-30058152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185982806	chr4:30058202-30058203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30057000-30058000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:30057200-30058000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:30057400-30058000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:30057400-30058200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:30057600-30057800	Active TSS	Brain Hippocampus Middle	brain
6	chr4:30057600-30058000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:30057600-30058000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:30057600-30058200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:30057600-30058200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:30057800-30058000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr4:30058000-30058600	Enhancers	Brain Hippocampus Middle	brain
12	chr4:30058000-30062800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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