Variant report

Variant	nsv519675
Chromosome Location	chr4:10322185-10323935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10320256..10323019-chr4:10334627..10337093,2	K562	blood:
2	chr4:10289644..10291282-chr4:10323806..10326517,2	K562	blood:
3	chr4:10321044..10322655-chr4:10326498..10328725,2	K562	blood:
4	chr19:17416908..17417590-chr4:10322243..10323174,2	Hela-S3	cervix:
5	chr4:10322922..10325786-chr4:10326394..10328675,2	K562	blood:
6	chr4:10119978..10123045-chr4:10320529..10323793,3	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12506625	chr4:10322185-10322186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375620363	chr4:10322223-10322224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562985229	chr4:10322227-10322228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533653779	chr4:10322230-10322231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368582737	chr4:10322242-10322243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551803741	chr4:10322257-10322258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79515932	chr4:10322260-10322261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533935880	chr4:10322264-10322265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73099450	chr4:10322270-10322271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547334906	chr4:10322283-10322284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567414732	chr4:10322294-10322295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186634114	chr4:10322306-10322307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565548665	chr4:10322320-10322321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575828708	chr4:10322338-10322339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556304630	chr4:10322339-10322340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192524126	chr4:10322345-10322346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150642372	chr4:10322359-10322360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2192092	chr4:10322363-10322364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572022440	chr4:10322364-10322365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567508987	chr4:10322385-10322386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79824542	chr4:10322400-10322401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61003749	chr4:10322420-10322421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549973416	chr4:10322469-10322470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78075333	chr4:10322514-10322515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140467726	chr4:10322531-10322532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368270424	chr4:10322554-10322555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144391756	chr4:10322563-10322564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78869188	chr4:10322565-10322566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60875624	chr4:10322577-10322578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568246728	chr4:10322579-10322580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560633145	chr4:10322589-10322590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559504528	chr4:10322597-10322598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115874772	chr4:10322668-10322669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147830740	chr4:10322673-10322674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141432405	chr4:10322677-10322678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368009886	chr4:10322695-10322696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554092354	chr4:10322696-10322697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371930540	chr4:10322710-10322711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371307267	chr4:10322726-10322727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149967865	chr4:10322730-10322731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116277020	chr4:10322754-10322755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144871413	chr4:10322756-10322757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112781262	chr4:10322757-10322758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75035503	chr4:10322774-10322775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149033656	chr4:10322804-10322805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6854794	chr4:10322823-10322824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554581758	chr4:10322839-10322840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187644917	chr4:10322843-10322844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369513582	chr4:10322875-10322876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543477521	chr4:10322880-10322881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10321000-10323000	Weak transcription	K562	blood
2	chr4:10321400-10322600	Enhancers	HepG2	liver
3	chr4:10322000-10322400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:10322400-10328800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:10323000-10325400	Enhancers	K562	blood

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