Variant report

Variant	nsv981026
Chromosome Location	chr5:113539925-113544652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577955635	chr5:113540244-113540245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147445736	chr5:113540350-113540351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372911043	chr5:113540366-113540367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560386165	chr5:113540394-113540395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189638899	chr5:113540410-113540411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56929721	chr5:113540427-113540428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139558639	chr5:113540448-113540449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542969049	chr5:113540475-113540476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561267374	chr5:113540484-113540485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139148998	chr5:113540507-113540508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569800085	chr5:113540542-113540543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536872367	chr5:113540578-113540579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375629811	chr5:113540584-113540585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192682268	chr5:113540594-113540595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144044374	chr5:113540595-113540596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148654397	chr5:113540604-113540605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370154513	chr5:113540607-113540608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532315422	chr5:113540631-113540632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571781670	chr5:113540645-113540646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6868140	chr5:113540661-113540662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs565937756	chr5:113540680-113540681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200084534	chr5:113540779-113540780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76527694	chr5:113540788-113540789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374159878	chr5:113540789-113540790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367860984	chr5:113540790-113540791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535907905	chr5:113540830-113540831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554548471	chr5:113540870-113540871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539973470	chr5:113540877-113540878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201295587	chr5:113540878-113540879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569681459	chr5:113540896-113540897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184026341	chr5:113540901-113540902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572378435	chr5:113540943-113540944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34090741	chr5:113541009-113541010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78316188	chr5:113541017-113541018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188755299	chr5:113541027-113541028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545150780	chr5:113541038-113541039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554055168	chr5:113541088-113541089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572690526	chr5:113541090-113541091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181609922	chr5:113541098-113541099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6872938	chr5:113541100-113541101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531573104	chr5:113541114-113541115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543954871	chr5:113541156-113541157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565330264	chr5:113541209-113541210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539435809	chr5:113541251-113541252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186133192	chr5:113541273-113541274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565880296	chr5:113541287-113541288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79639491	chr5:113541305-113541306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371227365	chr5:113541343-113541344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547912704	chr5:113541371-113541372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139743323	chr5:113541374-113541375	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
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113540200-113541600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:113540600-113541000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:113542000-113543600	Enhancers	Fetal Heart	heart
4	chr5:113543600-113544600	Flanking Active TSS	Fetal Heart	heart
5	chr5:113544600-113546800	Enhancers	Fetal Heart	heart

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