Variant report

Variant	nsv10430
Chromosome Location	chr4:3816194-3818660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3811726..3813926-chr4:3814781..3817425,2	MCF-7	breast:
2	chr4:3818392..3820199-chr4:3832568..3834431,2	MCF-7	breast:
3	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:
4	chr1:200638738..200639282-chr4:3817222..3817742,2	Hela-S3	cervix:
5	chr4:3818030..3819660-chr4:3821403..3823144,2	K562	blood:

Variant related genes	Relation type
ENSG00000118197	chromatin interactions

Extended variants
information (count: 263 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182476888	chr4:3816251-3816252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569259332	chr4:3816280-3816281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537299138	chr4:3816292-3816293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187054083	chr4:3816318-3816319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200714190	chr4:3816324-3816325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192031716	chr4:3816333-3816334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182967720	chr4:3816362-3816363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567610920	chr4:3816364-3816365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536439467	chr4:3816385-3816386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76959435	chr4:3816405-3816406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540242209	chr4:3816420-3816421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78695168	chr4:3816423-3816424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372460928	chr4:3816437-3816438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574391926	chr4:3816470-3816471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544818003	chr4:3816493-3816494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367840850	chr4:3816508-3816509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371602545	chr4:3816516-3816517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78786864	chr4:3816530-3816531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60702183	chr4:3816534-3816535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61052687	chr4:3816535-3816536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114659799	chr4:3816544-3816545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376256759	chr4:3816561-3816562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56807276	chr4:3816562-3816563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374088592	chr4:3816572-3816573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55830631	chr4:3816574-3816575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113776756	chr4:3816582-3816583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59127663	chr4:3816588-3816589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367937635	chr4:3816590-3816591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111294658	chr4:3816599-3816600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56693305	chr4:3816600-3816601	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111489281	chr4:3816611-3816612	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111477553	chr4:3816615-3816616	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373361926	chr4:3816621-3816622	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201314358	chr4:3816622-3816623	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376508593	chr4:3816624-3816625	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55806254	chr4:3816626-3816627	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111882581	chr4:3816628-3816629	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200880389	chr4:3816635-3816636	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55763064	chr4:3816636-3816637	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56241819	chr4:3816642-3816643	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112002052	chr4:3816644-3816645	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111488265	chr4:3816645-3816646	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56099529	chr4:3816653-3816654	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558232766	chr4:3816657-3816658	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56228810	chr4:3816658-3816659	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112805792	chr4:3816665-3816666	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375202098	chr4:3816669-3816670	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77233057	chr4:3816670-3816671	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55731104	chr4:3816676-3816677	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55711742	chr4:3816678-3816679	Bivalent Enhancer 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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3815200-3819800	Weak transcription	HepG2	liver
2	chr4:3816600-3816800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
3	chr4:3816800-3817000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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