Variant report

Variant	nsv526990
Chromosome Location	chr5:119328578-119332670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533828049	chr5:119330404-119330405	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs978445	chr5:119330405-119330406	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567186374	chr5:119330436-119330437	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536020572	chr5:119330438-119330439	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556020530	chr5:119330479-119330480	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62375598	chr5:119330489-119330490	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144716214	chr5:119330525-119330526	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368075282	chr5:119330567-119330568	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569824505	chr5:119330587-119330588	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184310167	chr5:119330591-119330592	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145954610	chr5:119330620-119330621	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs199806354	chr5:119330621-119330622	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76069738	chr5:119330638-119330639	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77676563	chr5:119330639-119330640	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79732652	chr5:119330643-119330644	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76614128	chr5:119330657-119330658	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139631712	chr5:119330667-119330668	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577956156	chr5:119330685-119330686	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540650377	chr5:119330694-119330695	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372369757	chr5:119330695-119330696	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113461256	chr5:119330697-119330698	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529167480	chr5:119330713-119330714	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542365315	chr5:119330753-119330754	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562351566	chr5:119330757-119330758	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188653220	chr5:119330783-119330784	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551055803	chr5:119330815-119330816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571344836	chr5:119330816-119330817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541895469	chr5:119330819-119330820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375817236	chr5:119330820-119330821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527274903	chr5:119330826-119330827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547383476	chr5:119330835-119330836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567027145	chr5:119330850-119330851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536160215	chr5:119330896-119330897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180972786	chr5:119330897-119330898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201644823	chr5:119330916-119330917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112569837	chr5:119330931-119330932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185890604	chr5:119330974-119330975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570249498	chr5:119331007-119331008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62375599	chr5:119331020-119331021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs36059670	chr5:119331037-119331038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144075599	chr5:119331077-119331078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540231118	chr5:119331078-119331079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146000822	chr5:119331085-119331086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190695495	chr5:119331092-119331093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17145954	chr5:119331183-119331184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181983080	chr5:119331203-119331204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115324861	chr5:119331213-119331214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371513264	chr5:119331225-119331226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113771628	chr5:119331235-119331236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186986733	chr5:119331276-119331277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119330400-119330800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:119330400-119330800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr5:119330800-119332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:119331400-119332200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:119331600-119332200	Enhancers	Psoas Muscle	Psoas
6	chr5:119332000-119332200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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