Variant report

Variant	nsv575553
Chromosome Location	chr17:50321172-50377157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:49841475..49842039-chr17:50374358..50374963,2	MCF-7	breast:
2	chr17:50248094..50248992-chr17:50374364..50375238,4	MCF-7	breast:
3	chr17:50358656..50360742-chr17:50369860..50371377,2	K562	blood:
4	chr17:50358656..50360742-chr17:50369860..50371377,2	K562	blood:

Extended variants
information (count: 202 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145831036	chr17:50322025-50322026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75018056	chr17:50322031-50322032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185900516	chr17:50322070-50322071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551187513	chr17:50322086-50322087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191611009	chr17:50322096-50322097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138426841	chr17:50322130-50322131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16951189	chr17:50322154-50322155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143029687	chr17:50322238-50322239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73987623	chr17:50322248-50322249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555587393	chr17:50322311-50322312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575456502	chr17:50322313-50322314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544137902	chr17:50322316-50322317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563932572	chr17:50322321-50322322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78643298	chr17:50322371-50322372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183906149	chr17:50322395-50322396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558795223	chr17:50325841-50325842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370195328	chr17:50325855-50325856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116225501	chr17:50325863-50325864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567091096	chr17:50325864-50325865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548014936	chr17:50325927-50325928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527907375	chr17:50326007-50326008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568013904	chr17:50326032-50326033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72523796	chr17:50326033-50326034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199703260	chr17:50326034-50326035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36108160	chr17:50326084-50326085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536670896	chr17:50326090-50326091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556392126	chr17:50326118-50326119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150501004	chr17:50326132-50326133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538986697	chr17:50326171-50326172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559102542	chr17:50326200-50326201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577036129	chr17:50326204-50326205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572578836	chr17:50326221-50326222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541597172	chr17:50326224-50326225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72836092	chr17:50326252-50326253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112734822	chr17:50326276-50326277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183336035	chr17:50326352-50326353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372446542	chr17:50326357-50326358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563717058	chr17:50326385-50326386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187112434	chr17:50326389-50326390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190849993	chr17:50326401-50326402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538233231	chr17:50326428-50326429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145644684	chr17:50326457-50326458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559485494	chr17:50326480-50326481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571363513	chr17:50326551-50326552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538760523	chr17:50326610-50326611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138395794	chr17:50326651-50326652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12150309	chr17:50326684-50326685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142727207	chr17:50326685-50326686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548451183	chr17:50326750-50326751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75202147	chr17:50326751-50326752	Weak transcription	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50322000-50322400	Enhancers	Liver	Liver
2	chr17:50325800-50328200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:50332200-50333400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr17:50332400-50333400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr17:50332800-50333600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr17:50333000-50333600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr17:50333200-50333600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr17:50354200-50354800	Enhancers	Fetal Brain Male	brain
9	chr17:50356600-50356800	Enhancers	Fetal Brain Male	brain
10	chr17:50369600-50370400	Enhancers	Adipose Nuclei	Adipose

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