Variant report

Variant	nsv522251
Chromosome Location	chr17:50530328-50538567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10515013	chr17:50530328-50530329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77860235	chr17:50530349-50530350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145993601	chr17:50530377-50530378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs967316	chr17:50530391-50530392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373808564	chr17:50530411-50530412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566485957	chr17:50530418-50530419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574694484	chr17:50530438-50530439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543204537	chr17:50530452-50530453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12325953	chr17:50530558-50530559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138883171	chr17:50530603-50530604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545946321	chr17:50530609-50530610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559369182	chr17:50530662-50530663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528047345	chr17:50530663-50530664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1424319	chr17:50530720-50530721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561380664	chr17:50530741-50530742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530426216	chr17:50530747-50530748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10515014	chr17:50530748-50530749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs371598207	chr17:50530750-50530751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35041771	chr17:50530757-50530758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548338419	chr17:50530775-50530776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150297665	chr17:50530787-50530788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538731607	chr17:50530815-50530816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552284077	chr17:50530816-50530817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566189131	chr17:50530857-50530858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115794559	chr17:50530901-50530902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116247348	chr17:50530933-50530934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189350395	chr17:50530935-50530936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374040825	chr17:50530998-50530999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537381506	chr17:50531000-50531001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557175235	chr17:50531019-50531020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577136547	chr17:50531078-50531079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75559260	chr17:50531113-50531114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552758041	chr17:50531158-50531159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78793195	chr17:50531173-50531174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541415588	chr17:50531209-50531210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549857820	chr17:50531252-50531253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577575425	chr17:50531323-50531324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530318984	chr17:50531324-50531325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370742049	chr17:50531373-50531374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563521962	chr17:50531408-50531409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180672913	chr17:50531415-50531416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552371818	chr17:50531429-50531430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148521009	chr17:50531458-50531459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs954263	chr17:50531506-50531507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565075592	chr17:50531509-50531510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs954262	chr17:50531517-50531518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202118644	chr17:50531544-50531545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371459327	chr17:50531546-50531547	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50528400-50531600	Enhancers	Cortex derived primary cultured neurospheres	brain

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