Variant report

Variant	nsv525057
Chromosome Location	chr4:19306711-19310352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs312330	chr4:19306711-19306712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75971248	chr4:19306722-19306723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60034878	chr4:19306728-19306729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75225900	chr4:19306734-19306735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75588526	chr4:19306735-19306736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76345684	chr4:19306739-19306740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79023098	chr4:19306773-19306774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77924525	chr4:19306775-19306776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572541179	chr4:19306798-19306799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552976474	chr4:19306800-19306801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141761065	chr4:19306814-19306815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369043923	chr4:19306845-19306846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545226915	chr4:19306928-19306929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563433944	chr4:19306943-19306944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73108771	chr4:19306946-19306947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543141506	chr4:19306955-19306956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80089970	chr4:19306959-19306960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191953513	chr4:19307022-19307023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146645143	chr4:19307049-19307050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527736853	chr4:19307050-19307051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397992444	chr4:19307059-19307060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76826184	chr4:19307060-19307061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188350161	chr4:19307137-19307138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181009934	chr4:19307151-19307152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112523489	chr4:19307167-19307168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183591219	chr4:19307168-19307169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536794889	chr4:19307191-19307192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142705745	chr4:19307218-19307219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571138240	chr4:19307247-19307248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62296409	chr4:19307338-19307339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150611422	chr4:19307357-19307358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534337647	chr4:19307375-19307376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552905848	chr4:19307384-19307385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553498945	chr4:19307406-19307407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538925797	chr4:19307437-19307438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190771689	chr4:19307450-19307451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373348155	chr4:19307457-19307458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182001210	chr4:19307474-19307475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543179813	chr4:19307573-19307574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561243254	chr4:19307585-19307586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573262797	chr4:19307588-19307589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574957797	chr4:19307605-19307606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565240531	chr4:19307639-19307640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187258379	chr4:19307652-19307653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73108773	chr4:19307689-19307690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149370400	chr4:19307691-19307692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530215108	chr4:19307693-19307694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542265324	chr4:19307712-19307713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557187981	chr4:19307731-19307732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534674209	chr4:19307735-19307736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19303600-19310000	Weak transcription	NHLF	lung
2	chr4:19307800-19311200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:19309800-19311800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:19310000-19310400	Enhancers	NHLF	lung
5	chr4:19310000-19311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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