Variant report

Variant	nsv1020870
Chromosome Location	chr5:113928284-113980156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs7717926	chr5:113931405-113931406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369638761	chr5:113931406-113931407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539594901	chr5:113931474-113931475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557720633	chr5:113931500-113931501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191337395	chr5:113931517-113931518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183680611	chr5:113931518-113931519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555212625	chr5:113931524-113931525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573866287	chr5:113931528-113931529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7717990	chr5:113931571-113931572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556110846	chr5:113931587-113931588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137861879	chr5:113931595-113931596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35463702	chr5:113931630-113931631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189499521	chr5:113931652-113931653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377525842	chr5:113931654-113931655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181104188	chr5:113931668-113931669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573026849	chr5:113931704-113931705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562354107	chr5:113931716-113931717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529588125	chr5:113931733-113931734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142343920	chr5:113931738-113931739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569390579	chr5:113931740-113931741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533582347	chr5:113931758-113931759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572012677	chr5:113931769-113931770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10063983	chr5:113931812-113931813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374306713	chr5:113931816-113931817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7718832	chr5:113931828-113931829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150522787	chr5:113931831-113931832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139612165	chr5:113931897-113931898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567526467	chr5:113931919-113931920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537795639	chr5:113931975-113931976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376334763	chr5:113931981-113931982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544078932	chr5:113931982-113931983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376361359	chr5:113932018-113932019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185074279	chr5:113932020-113932021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115577566	chr5:113932025-113932026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs694016	chr5:113932029-113932030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577522449	chr5:113932035-113932036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542622863	chr5:113932047-113932048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189950934	chr5:113932048-113932049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574265798	chr5:113932073-113932074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544537561	chr5:113932118-113932119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35454452	chr5:113932214-113932215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550822223	chr5:113932216-113932217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181660398	chr5:113932231-113932232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186182320	chr5:113932262-113932263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149754563	chr5:113932290-113932291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560196798	chr5:113932305-113932306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190791572	chr5:113932316-113932317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181926385	chr5:113932323-113932324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567515379	chr5:113932333-113932334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374620045	chr5:113932343-113932344	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113931400-113932400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:113938400-113938800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
3	chr5:113971000-113972200	Enhancers	Colon Smooth Muscle	Colon
4	chr5:113980000-113980600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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