Variant report

Variant	nsv528521
Chromosome Location	chr5:117793509-117799807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 306 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4329039	chr5:117793509-117793510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143532141	chr5:117793519-117793520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184113532	chr5:117793557-117793558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558264324	chr5:117793569-117793570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115287890	chr5:117793591-117793592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540818112	chr5:117793634-117793635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554493308	chr5:117793654-117793655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79675681	chr5:117793655-117793656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543262630	chr5:117793662-117793663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72793514	chr5:117793701-117793702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565850100	chr5:117793708-117793709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372271820	chr5:117793709-117793710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188844881	chr5:117793710-117793711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180676514	chr5:117793712-117793713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564622632	chr5:117793815-117793816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72793515	chr5:117793846-117793847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369354282	chr5:117793847-117793848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186112223	chr5:117793929-117793930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536575601	chr5:117793933-117793934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567415642	chr5:117793938-117793939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116377561	chr5:117793954-117793955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550023381	chr5:117793971-117793972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112393556	chr5:117793985-117793986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527410019	chr5:117794007-117794008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112393128	chr5:117794009-117794010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558327688	chr5:117794018-117794019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112735951	chr5:117794029-117794030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140485875	chr5:117794043-117794044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554083419	chr5:117794044-117794045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574145200	chr5:117794046-117794047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542973989	chr5:117794057-117794058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556795294	chr5:117794107-117794108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529856760	chr5:117794124-117794125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117451530	chr5:117794134-117794135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564493495	chr5:117794138-117794139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118156192	chr5:117794139-117794140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74739859	chr5:117794145-117794146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560946129	chr5:117794170-117794171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529875178	chr5:117794194-117794195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191835385	chr5:117794216-117794217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150411250	chr5:117794231-117794232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531789029	chr5:117794233-117794234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551804567	chr5:117794269-117794270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554549555	chr5:117794292-117794293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569671731	chr5:117794299-117794300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59827684	chr5:117794325-117794326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571630930	chr5:117794372-117794373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138283784	chr5:117794382-117794383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182460972	chr5:117794389-117794390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539478989	chr5:117794421-117794422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
2	chr5:117795000-117795800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:117795800-117796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:117796400-117797600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:117796800-117797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:117797000-117797200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:117797000-117797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:117797000-117797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:117797200-117797600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:117797200-117797600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:117797600-117800400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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