Variant report

Variant	nsv520190
Chromosome Location	chr7:70546596-70550271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs6460638	chr7:70546596-70546597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556833836	chr7:70546621-70546622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568717051	chr7:70546657-70546658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539582104	chr7:70546665-70546666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187935516	chr7:70546692-70546693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561375857	chr7:70546712-70546713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573258585	chr7:70546737-70546738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540343801	chr7:70546741-70546742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554752013	chr7:70546762-70546763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553629218	chr7:70546811-70546812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534087694	chr7:70546836-70546837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375903807	chr7:70546849-70546850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571572911	chr7:70546850-70546851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398047553	chr7:70546858-70546859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199591417	chr7:70546860-70546861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57408254	chr7:70546862-70546863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150862859	chr7:70546864-70546865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200806676	chr7:70546868-70546869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13222943	chr7:70546900-70546901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578219970	chr7:70546935-70546936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191370936	chr7:70546954-70546955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140597213	chr7:70546969-70546970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574070971	chr7:70546977-70546978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544968039	chr7:70546984-70546985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184277647	chr7:70546985-70546986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375400561	chr7:70547036-70547037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530447417	chr7:70547038-70547039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550265716	chr7:70547059-70547060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138160112	chr7:70547094-70547095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564803913	chr7:70547118-70547119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528225538	chr7:70547119-70547120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10256726	chr7:70547132-70547133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567764695	chr7:70547162-70547163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188663615	chr7:70547182-70547183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10256742	chr7:70547195-70547196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568780050	chr7:70547204-70547205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561011657	chr7:70547230-70547231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567052523	chr7:70547231-70547232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539279161	chr7:70547250-70547251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116732609	chr7:70547254-70547255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114675991	chr7:70547263-70547264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534340894	chr7:70547288-70547289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555891795	chr7:70547318-70547319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373112850	chr7:70547433-70547434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149129962	chr7:70547486-70547487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544577136	chr7:70547487-70547488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569748039	chr7:70547501-70547502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116460526	chr7:70547534-70547535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs207468050	chr7:70547572-70547573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578175183	chr7:70547573-70547574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70543400-70552600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70549000-70549200	Enhancers	HSMM	muscle

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