Variant report

Variant	nsv1020129
Chromosome Location	chr5:98582211-98631295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 293 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140863912	chr5:98582214-98582215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115121854	chr5:98582223-98582224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149747069	chr5:98582285-98582286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537826069	chr5:98582300-98582301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550507990	chr5:98582414-98582415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568802652	chr5:98582579-98582580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145434922	chr5:98582727-98582728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78559875	chr5:98582800-98582801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148822909	chr5:98582808-98582809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181504328	chr5:98582827-98582828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186455973	chr5:98582839-98582840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72777471	chr5:98582852-98582853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77583919	chr5:98582857-98582858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190484496	chr5:98582858-98582859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575137424	chr5:98582870-98582871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571890304	chr5:98582879-98582880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554339941	chr5:98582886-98582887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542460497	chr5:98582887-98582888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6596776	chr5:98582895-98582896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527861358	chr5:98582916-98582917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78677777	chr5:98582928-98582929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181042911	chr5:98582974-98582975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145286689	chr5:98583014-98583015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531640918	chr5:98583016-98583017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77013196	chr5:98583020-98583021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531720303	chr5:98583066-98583067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58402973	chr5:98583069-98583070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558260944	chr5:98583114-98583115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549947729	chr5:98583151-98583152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35530575	chr5:98583167-98583168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73137726	chr5:98583222-98583223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532639934	chr5:98583229-98583230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73776749	chr5:98583252-98583253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116682800	chr5:98583256-98583257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566685981	chr5:98583276-98583277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58485837	chr5:98583279-98583280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558657646	chr5:98583302-98583303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533773018	chr5:98583379-98583380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370585296	chr5:98583431-98583432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186078911	chr5:98583455-98583456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556163601	chr5:98583466-98583467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575233923	chr5:98583468-98583469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137928011	chr5:98583469-98583470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554155001	chr5:98583506-98583507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375529844	chr5:98583557-98583558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577505403	chr5:98583565-98583566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373984364	chr5:98583575-98583576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74423025	chr5:98583591-98583592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564607496	chr5:98583640-98583641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531652506	chr5:98583644-98583645	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98579200-98582800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:98582800-98584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:98583000-98583600	Enhancers	Fetal Muscle Leg	muscle
4	chr5:98583400-98584200	Enhancers	HUVEC	blood vessel
5	chr5:98584000-98584400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:98584400-98584800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:98589400-98592400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:98591200-98591800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:98592400-98593000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:98593000-98593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:98615200-98615600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:98621600-98622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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