Variant report

Variant	nsv462313
Chromosome Location	chr5:98779530-98797928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 282 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:282 , 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	rs1403660	chr5:98779530-98779531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571255282	chr5:98779594-98779595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2948759	chr5:98779597-98779598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572016728	chr5:98779606-98779607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368217647	chr5:98779626-98779627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570045415	chr5:98779646-98779647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369693929	chr5:98779647-98779648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557688416	chr5:98779657-98779658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576149973	chr5:98779691-98779692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543190204	chr5:98779695-98779696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369953759	chr5:98779696-98779697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561746057	chr5:98779742-98779743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148434631	chr5:98779747-98779748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186815601	chr5:98779758-98779759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2511929	chr5:98779762-98779763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559352633	chr5:98779765-98779766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114772086	chr5:98779833-98779834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191978118	chr5:98779856-98779857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570171186	chr5:98779874-98779875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142898403	chr5:98779885-98779886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531111234	chr5:98779894-98779895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549111768	chr5:98779913-98779914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534250252	chr5:98780013-98780014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367768884	chr5:98780014-98780015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183944501	chr5:98780044-98780045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552949590	chr5:98780138-98780139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186702283	chr5:98780142-98780143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191216651	chr5:98780151-98780152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7444876	chr5:98780152-98780153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79556169	chr5:98780165-98780166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79226155	chr5:98780179-98780180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2030604	chr5:98780201-98780202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182629989	chr5:98780261-98780262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370070637	chr5:98780268-98780269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151092212	chr5:98780275-98780276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555544782	chr5:98780312-98780313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535533994	chr5:98780320-98780321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187007648	chr5:98780339-98780340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559413488	chr5:98780360-98780361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376497332	chr5:98780385-98780386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545404195	chr5:98780400-98780401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139924223	chr5:98780436-98780437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386690438	chr5:98780502-98780503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565793037	chr5:98780503-98780504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201149825	chr5:98780512-98780513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs33974506	chr5:98780513-98780514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541202236	chr5:98780571-98780572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149845957	chr5:98780583-98780584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556156233	chr5:98780628-98780629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76279849	chr5:98780635-98780636	Weak transcription	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	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98779000-98779800	Enhancers	Stomach Mucosa	stomach
2	chr5:98779800-98780800	Weak transcription	Stomach Mucosa	stomach
3	chr5:98780800-98781800	Enhancers	Stomach Mucosa	stomach
4	chr5:98781200-98781600	Enhancers	Gastric	stomach
5	chr5:98781800-98783600	Weak transcription	Stomach Mucosa	stomach
6	chr5:98783600-98784000	Enhancers	Stomach Mucosa	stomach
7	chr5:98785400-98785800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:98785400-98786000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:98795600-98796800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:98795600-98798000	Enhancers	HUVEC	blood vessel
11	chr5:98795800-98796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:98796000-98796400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:98796000-98796400	Enhancers	HMEC	breast
14	chr5:98796200-98796600	Enhancers	Stomach Mucosa	stomach
15	chr5:98797800-98798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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