Variant report

Variant	nsv823190
Chromosome Location	chr5:116847543-116856431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:
2	chr5:116847509..116849245-chr5:116850386..116852687,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531865151	chr5:116849401-116849402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143265380	chr5:116849414-116849415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35386094	chr5:116849446-116849447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182088748	chr5:116849447-116849448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148301722	chr5:116849454-116849455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575290194	chr5:116849495-116849496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575557611	chr5:116849496-116849497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543920448	chr5:116849503-116849504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557713621	chr5:116849506-116849507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578212592	chr5:116849533-116849534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186071223	chr5:116849534-116849535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115320351	chr5:116849569-116849570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17141968	chr5:116849573-116849574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571635147	chr5:116849582-116849583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543232882	chr5:116849616-116849617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140429349	chr5:116849626-116849627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531807548	chr5:116849640-116849641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79554040	chr5:116849661-116849662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571580091	chr5:116849690-116849691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533081881	chr5:116849774-116849775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73258885	chr5:116849788-116849789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566341256	chr5:116849795-116849796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568851131	chr5:116855601-116855602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527396909	chr5:116855616-116855617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376679112	chr5:116855623-116855624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs396853	chr5:116855630-116855631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142935380	chr5:116855652-116855653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578253726	chr5:116855656-116855657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369456763	chr5:116855664-116855665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534467070	chr5:116855693-116855694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554409888	chr5:116855715-116855716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114082739	chr5:116855732-116855733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375927160	chr5:116855769-116855770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144592558	chr5:116855785-116855786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148462475	chr5:116855831-116855832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs388865	chr5:116855837-116855838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142626985	chr5:116855898-116855899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564902976	chr5:116855931-116855932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150974269	chr5:116855952-116855953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181559503	chr5:116855956-116855957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563545410	chr5:116855960-116855961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs423990	chr5:116855963-116855964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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
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	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116849400-116849800	Enhancers	Adipose Nuclei	Adipose
2	chr5:116855600-116856000	Enhancers	Colon Smooth Muscle	Colon

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