Variant report

Variant	nsv882433
Chromosome Location	chr5:99179262-99234733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 86 )

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	rs7448872	chr5:99179262-99179263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75689904	chr5:99179273-99179274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576173833	chr5:99179300-99179301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573282756	chr5:99179307-99179308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140069552	chr5:99179334-99179335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144025081	chr5:99179367-99179368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193057206	chr5:99179373-99179374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544784349	chr5:99179433-99179434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150692268	chr5:99179434-99179435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185032372	chr5:99179443-99179444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542921111	chr5:99179451-99179452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539286511	chr5:99179462-99179463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528409790	chr5:99179494-99179495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111612114	chr5:99179501-99179502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371598603	chr5:99179506-99179507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199864324	chr5:99179512-99179513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200979428	chr5:99179513-99179514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80336675	chr5:99179547-99179548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200831457	chr5:99179557-99179558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559492610	chr5:99179563-99179564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544905465	chr5:99179663-99179664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116750265	chr5:99179665-99179666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551623585	chr5:99179806-99179807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569913913	chr5:99179836-99179837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78000281	chr5:99179853-99179854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549252962	chr5:99179861-99179862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35995266	chr5:99179875-99179876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535031794	chr5:99179894-99179895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202203476	chr5:99179908-99179909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35383326	chr5:99179926-99179927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552891540	chr5:99179935-99179936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571194517	chr5:99179979-99179980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7719195	chr5:99180088-99180089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571534045	chr5:99180096-99180097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74357763	chr5:99180137-99180138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58292894	chr5:99180144-99180145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201301681	chr5:99180185-99180186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376308407	chr5:99180187-99180188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575494304	chr5:99180236-99180237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149761403	chr5:99180249-99180250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554825117	chr5:99180268-99180269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573128539	chr5:99180271-99180272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79247031	chr5:99180273-99180274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373596563	chr5:99180304-99180305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530126885	chr5:99180340-99180341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58418501	chr5:99180373-99180374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116260069	chr5:99180387-99180388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115493139	chr5:99180417-99180418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547494792	chr5:99180424-99180425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530929463	chr5:99180449-99180450	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99179200-99181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:99191600-99191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr5:99191600-99192000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:99191600-99192200	Active TSS	H9 Cell Line	embryonic stem cell

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