Variant report

Variant	esv20749
Chromosome Location	chr4:3565454-3570639
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	chr4:3557568..3561232-chr4:3567417..3570129,3	K562	blood:

Extended variants
information (count: 448 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554974819	chr4:3565460-3565461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs118030353	chr4:3565471-3565472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534428591	chr4:3565472-3565473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117824055	chr4:3565491-3565492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578116044	chr4:3565494-3565495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375640729	chr4:3565502-3565503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13106010	chr4:3565504-3565505	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181572140	chr4:3565534-3565535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577665522	chr4:3565568-3565569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574414050	chr4:3565580-3565581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371285353	chr4:3565603-3565604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559799240	chr4:3565615-3565616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528464929	chr4:3565616-3565617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13106262	chr4:3565624-3565625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1741574	chr4:3565628-3565629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530902663	chr4:3565649-3565650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549998436	chr4:3565653-3565654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13106289	chr4:3565654-3565655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371294521	chr4:3565658-3565659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548831423	chr4:3565660-3565661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565360055	chr4:3565665-3565666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376225476	chr4:3565681-3565682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560505775	chr4:3565724-3565725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557457989	chr4:3565728-3565729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571366432	chr4:3565732-3565733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368053186	chr4:3565736-3565737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112000846	chr4:3565738-3565739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113095096	chr4:3565744-3565745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112588564	chr4:3565745-3565746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536726018	chr4:3565748-3565749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557566359	chr4:3565759-3565760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2474789	chr4:3565785-3565786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543038404	chr4:3565802-3565803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3123330	chr4:3565806-3565807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369390504	chr4:3565814-3565815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1730795	chr4:3565819-3565820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3123329	chr4:3565832-3565833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553654095	chr4:3565835-3565836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573281706	chr4:3565837-3565838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545427526	chr4:3565857-3565858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375766860	chr4:3565862-3565863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565135042	chr4:3565873-3565874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575723727	chr4:3565880-3565881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544367618	chr4:3565883-3565884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563158316	chr4:3565891-3565892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369271613	chr4:3565937-3565938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3108674	chr4:3565940-3565941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113668349	chr4:3565943-3565944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12696707	chr4:3565958-3565959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12696708	chr4:3565972-3565973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3550600-3580400	Weak transcription	Right Atrium	heart
2	chr4:3558800-3574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:3565200-3565600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:3567800-3568800	Enhancers	Fetal Brain Male	brain
5	chr4:3568000-3568200	Enhancers	Fetal Lung	lung
6	chr4:3568000-3569000	Enhancers	Fetal Brain Female	brain
7	chr4:3568800-3569200	Active TSS	Fetal Lung	lung

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