Variant report

Variant	nsv436463
Chromosome Location	chr5:114207265-114217234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149634574	chr5:114209201-114209202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565362386	chr5:114209260-114209261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529674054	chr5:114209264-114209265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192143471	chr5:114209282-114209283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536778951	chr5:114209295-114209296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567970850	chr5:114209299-114209300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368316249	chr5:114209327-114209328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538108906	chr5:114209336-114209337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113452653	chr5:114209337-114209338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371933671	chr5:114209359-114209360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184638423	chr5:114209381-114209382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539164414	chr5:114209391-114209392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78078885	chr5:114209394-114209395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572415522	chr5:114209421-114209422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112423522	chr5:114209463-114209464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148759776	chr5:114209467-114209468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554623070	chr5:114209492-114209493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187829726	chr5:114209509-114209510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369148226	chr5:114209516-114209517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192401783	chr5:114209541-114209542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141523363	chr5:114209552-114209553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146204711	chr5:114209557-114209558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139220924	chr5:114209591-114209592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4705687	chr5:114209612-114209613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144063511	chr5:114209678-114209679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79252135	chr5:114209687-114209688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563096499	chr5:114209706-114209707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116168283	chr5:114209737-114209738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550475991	chr5:114209759-114209760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185766709	chr5:114209774-114209775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3071902	chr5:114209785-114209786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571905794	chr5:114209795-114209796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112198235	chr5:114209804-114209805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547981763	chr5:114209806-114209807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566170658	chr5:114209831-114209832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79628725	chr5:114209886-114209887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554990917	chr5:114209897-114209898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576358201	chr5:114209902-114209903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146416604	chr5:114209905-114209906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188976991	chr5:114209919-114209920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576689598	chr5:114209934-114209935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540846337	chr5:114209964-114209965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559236188	chr5:114209982-114209983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373410282	chr5:114209991-114209992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574483643	chr5:114209992-114209993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367675594	chr5:114212628-114212629	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs556765572	chr5:114212694-114212695	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs529274239	chr5:114212730-114212731	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs386691343	chr5:114212762-114212763	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs4577683	chr5:114212766-114212767	Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114209200-114210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:114212600-114212800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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