Variant report

Variant	nsv1022048
Chromosome Location	chr5:99249466-99271946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10515290	chr5:99249466-99249467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572409323	chr5:99249467-99249468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546295546	chr5:99249471-99249472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17167409	chr5:99249499-99249500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150217640	chr5:99249508-99249509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544110830	chr5:99249536-99249537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573463677	chr5:99249578-99249579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562408453	chr5:99249635-99249636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11750350	chr5:99249694-99249695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs2616322	chr5:99249718-99249719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138998087	chr5:99249835-99249836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66731403	chr5:99249837-99249838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17750372	chr5:99249876-99249877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186161003	chr5:99249881-99249882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78619437	chr5:99249934-99249935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116362847	chr5:99249938-99249939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569727676	chr5:99249944-99249945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536887446	chr5:99249948-99249949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555241411	chr5:99249964-99249965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75814834	chr5:99250051-99250052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115767974	chr5:99250092-99250093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376526783	chr5:99250094-99250095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116145438	chr5:99250107-99250108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149370478	chr5:99250124-99250125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545960231	chr5:99250144-99250145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145781489	chr5:99250160-99250161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576549677	chr5:99250183-99250184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191152011	chr5:99250212-99250213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562270486	chr5:99250255-99250256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529330563	chr5:99250268-99250269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114641617	chr5:99250294-99250295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2924607	chr5:99250297-99250298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545835219	chr5:99250309-99250310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1161336	chr5:99250323-99250324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182532688	chr5:99250324-99250325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80111877	chr5:99250349-99250350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530689903	chr5:99250365-99250366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571811888	chr5:99250395-99250396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533891171	chr5:99264217-99264218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1161327	chr5:99264322-99264323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192983994	chr5:99264335-99264336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183662818	chr5:99264338-99264339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143078678	chr5:99264352-99264353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574647403	chr5:99264371-99264372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536606321	chr5:99264380-99264381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554557938	chr5:99264398-99264399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572971416	chr5:99264448-99264449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1161326	chr5:99264455-99264456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553416692	chr5:99264477-99264478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188191678	chr5:99264509-99264510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99248600-99250400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr5:99264200-99264400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:99264400-99265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:99265400-99266000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:99265600-99265800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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