Variant report

Variant	nsv980181
Chromosome Location	chr4:7607528-7608806
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	chr4:7608228..7610804-chr4:7611053..7613515,2	MCF-7	breast:
2	chr4:7605625..7607831-chr4:7611111..7613660,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573537223	chr4:7607528-7607529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377193887	chr4:7607531-7607532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369971025	chr4:7607545-7607546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537945220	chr4:7607574-7607575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556666652	chr4:7607589-7607590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577913304	chr4:7607604-7607605	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61646954	chr4:7607624-7607625	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560733515	chr4:7607636-7607637	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189830362	chr4:7607638-7607639	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182774238	chr4:7607658-7607659	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187915405	chr4:7607692-7607693	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531695416	chr4:7607695-7607696	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117305935	chr4:7607740-7607741	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531972337	chr4:7607741-7607742	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386671264	chr4:7607757-7607758	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192844602	chr4:7607759-7607760	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532749500	chr4:7607781-7607782	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562021920	chr4:7607799-7607800	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566161461	chr4:7607828-7607829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369156474	chr4:7607849-7607850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183528773	chr4:7607914-7607915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528093976	chr4:7607919-7607920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548907718	chr4:7607922-7607923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12503735	chr4:7607924-7607925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs118002316	chr4:7607938-7607939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371043196	chr4:7607948-7607949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35619172	chr4:7607952-7607953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556343936	chr4:7607981-7607982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188477626	chr4:7607987-7607988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377350333	chr4:7607997-7607998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538630005	chr4:7607998-7607999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554186899	chr4:7608017-7608018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192538512	chr4:7608026-7608027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543332878	chr4:7608044-7608045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561614021	chr4:7608071-7608072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551593054	chr4:7608088-7608089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370964301	chr4:7608109-7608110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567843980	chr4:7608110-7608111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144348870	chr4:7608117-7608118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562406217	chr4:7608127-7608128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533067783	chr4:7608133-7608134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544741192	chr4:7608151-7608152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373195243	chr4:7608163-7608164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376366284	chr4:7608168-7608169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559711917	chr4:7608176-7608177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113811536	chr4:7608177-7608178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184676513	chr4:7608180-7608181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148628588	chr4:7608190-7608191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75512803	chr4:7608195-7608196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549969543	chr4:7608198-7608199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7607000-7609400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:7607000-7609600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:7607600-7607800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7608600-7609200	Weak transcription	Fetal Intestine Small	intestine

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