Variant report

Variant	esv3358758
Chromosome Location	chr4:3564379-3566927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs539696016	chr4:3564398-3564399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10805018	chr4:3564420-3564421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148526968	chr4:3564432-3564433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11942784	chr4:3564451-3564452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575956770	chr4:3564460-3564461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144270284	chr4:3564536-3564537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561402269	chr4:3564562-3564563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188309624	chr4:3564576-3564577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192965050	chr4:3564595-3564596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374531733	chr4:3564602-3564603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62275389	chr4:3564625-3564626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376544807	chr4:3564631-3564632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369816666	chr4:3564667-3564668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183972778	chr4:3564680-3564681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78204437	chr4:3564688-3564689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80150832	chr4:3564691-3564692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141346097	chr4:3564707-3564708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550433490	chr4:3564717-3564718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113642219	chr4:3564736-3564737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563549548	chr4:3564764-3564765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373311903	chr4:3564805-3564806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529239233	chr4:3564808-3564809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188304554	chr4:3564875-3564876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28416218	chr4:3564912-3564913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191305598	chr4:3564954-3564955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376994943	chr4:3565008-3565009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183533888	chr4:3565013-3565014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555761863	chr4:3565024-3565025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76198458	chr4:3565034-3565035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189395235	chr4:3565041-3565042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556392706	chr4:3565045-3565046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575954019	chr4:3565055-3565056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74386028	chr4:3565065-3565066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182043711	chr4:3565072-3565073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200787142	chr4:3565088-3565089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554936366	chr4:3565101-3565102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571858935	chr4:3565141-3565142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187094911	chr4:3565157-3565158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370127003	chr4:3565169-3565170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189980758	chr4:3565220-3565221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578099375	chr4:3565223-3565224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543782226	chr4:3565237-3565238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563965325	chr4:3565253-3565254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529550287	chr4:3565290-3565291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543090789	chr4:3565315-3565316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559760750	chr4:3565335-3565336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118121324	chr4:3565342-3565343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551861704	chr4:3565359-3565360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374834814	chr4:3565386-3565387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112154247	chr4:3565392-3565393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3550600-3580400	Weak transcription	Right Atrium	heart
2	chr4:3558400-3565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:3558800-3574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:3565200-3565600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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