Variant report

Variant	nsv962408
Chromosome Location	chr17:60311804-60320284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 359 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368893095	chr17:60311834-60311835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542019259	chr17:60311870-60311871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1913074	chr17:60311872-60311873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532080136	chr17:60311883-60311884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548595212	chr17:60311911-60311912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12948742	chr17:60311967-60311968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534190558	chr17:60312011-60312012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547831977	chr17:60312038-60312039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12946640	chr17:60312085-60312086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374187148	chr17:60312094-60312095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201770557	chr17:60312099-60312100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558497699	chr17:60312109-60312110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575477668	chr17:60312111-60312112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537790107	chr17:60312144-60312145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554141228	chr17:60312149-60312150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574048932	chr17:60312152-60312153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12949354	chr17:60312176-60312177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543963259	chr17:60312185-60312186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12947694	chr17:60312188-60312189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546361252	chr17:60312213-60312214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12947733	chr17:60312232-60312233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532037841	chr17:60312404-60312405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542493146	chr17:60312409-60312410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1967478	chr17:60312453-60312454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527655815	chr17:60312458-60312459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187664912	chr17:60312461-60312462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201974886	chr17:60312475-60312476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570905356	chr17:60312559-60312560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533301843	chr17:60312569-60312570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552340545	chr17:60312574-60312575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568759765	chr17:60312577-60312578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559995272	chr17:60312591-60312592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375939205	chr17:60312607-60312608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58513629	chr17:60312608-60312609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530192734	chr17:60312626-60312627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537654102	chr17:60312635-60312636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554402757	chr17:60312664-60312665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568035348	chr17:60312668-60312669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192482370	chr17:60312674-60312675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56846756	chr17:60312676-60312677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548754076	chr17:60312677-60312678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553520849	chr17:60312683-60312684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576860441	chr17:60312693-60312694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185819913	chr17:60312701-60312702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556224523	chr17:60312725-60312726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576666216	chr17:60312740-60312741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377000844	chr17:60312741-60312742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542454669	chr17:60312772-60312773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112169403	chr17:60312784-60312785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573200400	chr17:60312808-60312809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
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
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60310000-60312000	Enhancers	K562	blood
2	chr17:60312000-60315600	Weak transcription	K562	blood
3	chr17:60315600-60315800	Enhancers	K562	blood
4	chr17:60315600-60316200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr17:60315600-60316200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:60315800-60316200	Flanking Active TSS	K562	blood
7	chr17:60316000-60317600	Enhancers	HepG2	liver
8	chr17:60316200-60316400	Enhancers	A549	lung
9	chr17:60316200-60317600	Enhancers	K562	blood
10	chr17:60316800-60317600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:60317200-60317600	Enhancers	Fetal Lung	lung
12	chr17:60317600-60319400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:60317600-60319400	Weak transcription	K562	blood
14	chr17:60319400-60319800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:60319400-60319800	Enhancers	K562	blood
16	chr17:60319600-60319800	Enhancers	Sigmoid Colon	Sigmoid Colon

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