Variant report

Variant	nsv967277
Chromosome Location	chr4:3817774-3818682
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	chr4:3818030..3819660-chr4:3821403..3823144,2	K562	blood:
2	chr4:3818392..3820199-chr4:3832568..3834431,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534189399	chr4:3817798-3817799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73080697	chr4:3817820-3817821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112999531	chr4:3817825-3817826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577505335	chr4:3817834-3817835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77631278	chr4:3817840-3817841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188685481	chr4:3817867-3817868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576576311	chr4:3817876-3817877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148279169	chr4:3817911-3817912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557535917	chr4:3817924-3817925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66466157	chr4:3817945-3817946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141823543	chr4:3817963-3817964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541113893	chr4:3817964-3817965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114429801	chr4:3817975-3817976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150616989	chr4:3817980-3817981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551933179	chr4:3817985-3817986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150977232	chr4:3817994-3817995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115479934	chr4:3818005-3818006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531274035	chr4:3818061-3818062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555449542	chr4:3818063-3818064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529067763	chr4:3818071-3818072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373060686	chr4:3818091-3818092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140764994	chr4:3818107-3818108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533770550	chr4:3818109-3818110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553520578	chr4:3818119-3818120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571102258	chr4:3818135-3818136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28618241	chr4:3818136-3818137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556759224	chr4:3818158-3818159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576719158	chr4:3818170-3818171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542297038	chr4:3818180-3818181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544955955	chr4:3818195-3818196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555894113	chr4:3818210-3818211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28720942	chr4:3818231-3818232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541401052	chr4:3818232-3818233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578089760	chr4:3818236-3818237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545597940	chr4:3818237-3818238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560342294	chr4:3818261-3818262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545709339	chr4:3818268-3818269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562303976	chr4:3818280-3818281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143155661	chr4:3818289-3818290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527788130	chr4:3818328-3818329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548019721	chr4:3818337-3818338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370020912	chr4:3818348-3818349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147507252	chr4:3818352-3818353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115669724	chr4:3818353-3818354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547339349	chr4:3818383-3818384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78502675	chr4:3818384-3818385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77148005	chr4:3818392-3818393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113350104	chr4:3818409-3818410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548960631	chr4:3818419-3818420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560985080	chr4:3818427-3818428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3815200-3819800	Weak transcription	HepG2	liver

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