Variant report

Variant	esv2617049
Chromosome Location	chr4:45023959-45030609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542986754	chr4:45029213-45029214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561142383	chr4:45029220-45029221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528111734	chr4:45029234-45029235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142102414	chr4:45029242-45029243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561914769	chr4:45029245-45029246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80017727	chr4:45029288-45029289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78196415	chr4:45029289-45029290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564834348	chr4:45029313-45029314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532193856	chr4:45029315-45029316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78460921	chr4:45029345-45029346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569157200	chr4:45029353-45029354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13132484	chr4:45029356-45029357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs548505903	chr4:45029394-45029395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566788856	chr4:45029403-45029404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193297870	chr4:45029404-45029405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13105672	chr4:45029423-45029424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539764267	chr4:45029448-45029449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570865973	chr4:45029475-45029476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7356154	chr4:45029481-45029482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145744774	chr4:45029523-45029524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368461807	chr4:45029553-45029554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112589343	chr4:45029569-45029570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113366045	chr4:45029570-45029571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77773708	chr4:45029615-45029616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72493568	chr4:45029627-45029628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73250535	chr4:45029640-45029641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11945426	chr4:45029693-45029694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62411622	chr4:45029697-45029698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554928353	chr4:45029702-45029703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62411623	chr4:45029705-45029706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573130221	chr4:45029706-45029707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539859092	chr4:45029718-45029719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62411624	chr4:45029729-45029730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200037533	chr4:45029730-45029731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201214515	chr4:45029747-45029748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201644244	chr4:45029764-45029765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544322368	chr4:45029773-45029774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185091580	chr4:45029793-45029794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562229667	chr4:45029838-45029839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145546530	chr4:45029840-45029841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190384751	chr4:45029850-45029851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75063972	chr4:45029927-45029928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141732539	chr4:45029933-45029934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527945278	chr4:45029947-45029948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552582746	chr4:45029977-45029978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4643857	chr4:45029985-45029986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537828319	chr4:45030030-45030031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545227443	chr4:45030065-45030066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77076190	chr4:45030157-45030158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568540274	chr4:45030165-45030166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45029200-45029400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:45029400-45035800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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