Variant report

Variant	nsv1025221
Chromosome Location	chr5:113959252-113982231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532051388	chr5:113971018-113971019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146857710	chr5:113971039-113971040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376996113	chr5:113971041-113971042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570879816	chr5:113971055-113971056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140269948	chr5:113971056-113971057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542135772	chr5:113971106-113971107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370734731	chr5:113971121-113971122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150324676	chr5:113971134-113971135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375362912	chr5:113971171-113971172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs137864909	chr5:113971194-113971195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186817797	chr5:113971209-113971210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564123307	chr5:113971227-113971228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386691328	chr5:113971241-113971242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78818346	chr5:113971242-113971243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547627754	chr5:113971270-113971271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375569442	chr5:113971286-113971287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149455241	chr5:113971312-113971313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548895634	chr5:113971327-113971328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570149741	chr5:113971329-113971330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143052116	chr5:113971331-113971332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558737978	chr5:113971337-113971338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368277348	chr5:113971351-113971352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534813833	chr5:113971367-113971368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552927230	chr5:113971378-113971379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574809799	chr5:113971384-113971385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541748484	chr5:113971402-113971403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563647097	chr5:113971428-113971429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192125208	chr5:113971466-113971467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545941165	chr5:113971477-113971478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77403588	chr5:113971503-113971504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371854309	chr5:113971533-113971534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540355296	chr5:113971549-113971550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561648879	chr5:113971551-113971552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528932484	chr5:113971559-113971560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567746512	chr5:113971574-113971575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550311999	chr5:113971580-113971581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533607102	chr5:113971635-113971636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570291405	chr5:113971644-113971645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531127725	chr5:113971713-113971714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538314159	chr5:113971750-113971751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556710064	chr5:113971752-113971753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183905391	chr5:113971758-113971759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570740474	chr5:113971762-113971763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374374559	chr5:113971811-113971812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1820382	chr5:113971833-113971834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138908935	chr5:113971848-113971849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142931293	chr5:113971878-113971879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535793773	chr5:113971900-113971901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557086128	chr5:113971907-113971908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147396292	chr5:113971930-113971931	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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	21339820	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113971000-113972200	Enhancers	Colon Smooth Muscle	Colon
2	chr5:113980000-113980600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:113980400-113981000	Enhancers	Brain Substantia Nigra	brain

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