Variant report

Variant	esv3397589
Chromosome Location	chr4:3565979-3568527
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: 221 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs370609410	chr4:3565982-3565983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559183123	chr4:3565993-3565994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528365469	chr4:3566003-3566004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551384669	chr4:3566042-3566043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373510093	chr4:3566044-3566045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377648705	chr4:3566071-3566072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571140526	chr4:3566080-3566081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537162682	chr4:3566082-3566083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370888643	chr4:3566089-3566090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562693923	chr4:3566100-3566101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536800739	chr4:3566102-3566103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375573120	chr4:3566115-3566116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553596123	chr4:3566118-3566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368592971	chr4:3566126-3566127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573629441	chr4:3566127-3566128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533023763	chr4:3566128-3566129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145821325	chr4:3566129-3566130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575515410	chr4:3566149-3566150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190060264	chr4:3566171-3566172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367577269	chr4:3566175-3566176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561001334	chr4:3566196-3566197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573511216	chr4:3566199-3566200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371640598	chr4:3566206-3566207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374894695	chr4:3566209-3566210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371956348	chr4:3566227-3566228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528419674	chr4:3566235-3566236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376791897	chr4:3566236-3566237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551351783	chr4:3566273-3566274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564914987	chr4:3566274-3566275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2474788	chr4:3566278-3566279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77274478	chr4:3566281-3566282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369881405	chr4:3566282-3566283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530377060	chr4:3566283-3566284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373181689	chr4:3566284-3566285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374962283	chr4:3566304-3566305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138701570	chr4:3566305-3566306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373865966	chr4:3566317-3566318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547246509	chr4:3566318-3566319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567056828	chr4:3566322-3566323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539337128	chr4:3566323-3566324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72501985	chr4:3566327-3566328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62275391	chr4:3566330-3566331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373135173	chr4:3566331-3566332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569239404	chr4:3566332-3566333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150297387	chr4:3566348-3566349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201301803	chr4:3566351-3566352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537811981	chr4:3566355-3566356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371129534	chr4:3566356-3566357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554535554	chr4:3566359-3566360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574619432	chr4:3566360-3566361	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:5 , 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	chr4:3567800-3568800	Enhancers	Fetal Brain Male	brain
4	chr4:3568000-3568200	Enhancers	Fetal Lung	lung
5	chr4:3568000-3569000	Enhancers	Fetal Brain Female	brain

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