Variant report

Variant	nsv882434
Chromosome Location	chr5:99190070-99234733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547012369	chr5:99191617-99191618	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141419524	chr5:99191633-99191634	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149358625	chr5:99191650-99191651	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191721051	chr5:99191670-99191671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144732364	chr5:99191683-99191684	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs114511363	chr5:99191686-99191687	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12110197	chr5:99191700-99191701	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183859900	chr5:99191711-99191712	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12110106	chr5:99191716-99191717	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189027571	chr5:99191720-99191721	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543330519	chr5:99191733-99191734	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181467218	chr5:99191734-99191735	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187361042	chr5:99191739-99191740	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371005415	chr5:99191742-99191743	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571338054	chr5:99191763-99191764	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532260867	chr5:99191799-99191800	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550487953	chr5:99191810-99191811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190607979	chr5:99191818-99191819	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs536153488	chr5:99191844-99191845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181078678	chr5:99191845-99191846	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562524685	chr5:99191846-99191847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566439229	chr5:99191851-99191852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186084778	chr5:99191852-99191853	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189678056	chr5:99191861-99191862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552970025	chr5:99191870-99191871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577679611	chr5:99191885-99191886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545516145	chr5:99191886-99191887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs373440756	chr5:99191912-99191913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557247670	chr5:99191915-99191916	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201242911	chr5:99191934-99191935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2963316	chr5:99191935-99191936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs542863593	chr5:99191958-99191959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561583993	chr5:99191964-99191965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528818456	chr5:99191997-99191998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs55874220	chr5:99192000-99192001	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564909813	chr5:99192040-99192041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532225700	chr5:99192043-99192044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182722761	chr5:99192050-99192051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs55677640	chr5:99192063-99192064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529855954	chr5:99192072-99192073	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs59979659	chr5:99192098-99192099	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566400432	chr5:99192104-99192105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs55994697	chr5:99192105-99192106	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs55653437	chr5:99192116-99192117	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571333352	chr5:99192121-99192122	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538751632	chr5:99192143-99192144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs151017166	chr5:99192171-99192172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575655700	chr5:99192172-99192173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139460793	chr5:99192182-99192183	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99191600-99191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr5:99191600-99192000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:99191600-99192200	Active TSS	H9 Cell Line	embryonic stem cell

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