Variant report

Variant	nsv10431
Chromosome Location	chr4:3818230-3819604
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	chr4:3818392..3820199-chr4:3832568..3834431,2	MCF-7	breast:
2	chr4:3818030..3819660-chr4:3821403..3823144,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28720942	chr4:3818231-3818232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541401052	chr4:3818232-3818233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578089760	chr4:3818236-3818237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545597940	chr4:3818237-3818238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560342294	chr4:3818261-3818262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545709339	chr4:3818268-3818269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562303976	chr4:3818280-3818281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143155661	chr4:3818289-3818290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527788130	chr4:3818328-3818329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548019721	chr4:3818337-3818338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370020912	chr4:3818348-3818349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147507252	chr4:3818352-3818353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115669724	chr4:3818353-3818354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547339349	chr4:3818383-3818384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78502675	chr4:3818384-3818385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77148005	chr4:3818392-3818393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113350104	chr4:3818409-3818410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548960631	chr4:3818419-3818420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560985080	chr4:3818427-3818428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529133732	chr4:3818432-3818433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372693893	chr4:3818438-3818439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140120193	chr4:3818441-3818442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570408518	chr4:3818466-3818467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28759127	chr4:3818472-3818473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555718899	chr4:3818533-3818534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572481948	chr4:3818582-3818583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58962587	chr4:3818606-3818607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558100433	chr4:3818607-3818608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192284938	chr4:3818655-3818656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184296061	chr4:3818656-3818657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562429742	chr4:3818659-3818660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575963750	chr4:3818679-3818680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145639099	chr4:3818691-3818692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561754336	chr4:3818694-3818695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77652864	chr4:3818740-3818741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188776471	chr4:3818863-3818864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116339784	chr4:3818889-3818890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547286791	chr4:3818894-3818895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71605192	chr4:3818934-3818935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62291110	chr4:3818950-3818951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181216859	chr4:3818967-3818968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536184137	chr4:3818968-3818969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530101630	chr4:3819047-3819048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184641767	chr4:3819074-3819075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566159701	chr4:3819075-3819076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537863486	chr4:3819091-3819092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535078902	chr4:3819134-3819135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557976237	chr4:3819139-3819140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114766243	chr4:3819140-3819141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537030124	chr4:3819189-3819190	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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