Variant report

Variant	nsv518929
Chromosome Location	chr4:19616649-19629309
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	chr4:19258834..19261386-chr4:19628228..19629933,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10025939	chr4:19616649-19616650	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376224468	chr4:19616672-19616673	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554078221	chr4:19616677-19616678	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs75542634	chr4:19616822-19616823	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs374129077	chr4:19616837-19616838	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557391537	chr4:19616850-19616851	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376685185	chr4:19616851-19616852	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189364383	chr4:19616852-19616853	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543583355	chr4:19616867-19616868	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562126329	chr4:19616883-19616884	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181613550	chr4:19616890-19616891	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111887264	chr4:19616906-19616907	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7681473	chr4:19616924-19616925	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73251266	chr4:19616981-19616982	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140684019	chr4:19616993-19616994	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150093754	chr4:19616994-19616995	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74843859	chr4:19616999-19617000	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531003398	chr4:19617011-19617012	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs549492875	chr4:19617013-19617014	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552660343	chr4:19617028-19617029	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568154475	chr4:19617069-19617070	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535690908	chr4:19617128-19617129	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553740321	chr4:19617138-19617139	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565974385	chr4:19617183-19617184	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138568465	chr4:19617210-19617211	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557354714	chr4:19617228-19617229	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371054247	chr4:19617233-19617234	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368463114	chr4:19617236-19617237	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7682042	chr4:19617249-19617250	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141639366	chr4:19617260-19617261	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73101175	chr4:19617261-19617262	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541621824	chr4:19617274-19617275	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28763348	chr4:19617279-19617280	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7682588	chr4:19617286-19617287	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114972786	chr4:19617299-19617300	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146230698	chr4:19617302-19617303	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138012166	chr4:19617349-19617350	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7682477	chr4:19617422-19617423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567754348	chr4:19617431-19617432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529041827	chr4:19617443-19617444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149521832	chr4:19617498-19617499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144130254	chr4:19617499-19617500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539327692	chr4:19617509-19617510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551297603	chr4:19617510-19617511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569305690	chr4:19617515-19617516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537053608	chr4:19617545-19617546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75308602	chr4:19617579-19617580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573692663	chr4:19617585-19617586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565649457	chr4:19624000-19624001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539715543	chr4:19624032-19624033	Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19616000-19617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:19616000-19617000	Enhancers	HMEC	breast
3	chr4:19616600-19617200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:19616600-19617400	ZNF genes & repeats	Aorta	Aorta
5	chr4:19616600-19617600	Enhancers	Dnd41	blood
6	chr4:19624000-19624400	Enhancers	Dnd41	blood
7	chr4:19625400-19626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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