Variant report

Variant	nsv528751
Chromosome Location	chr17:50547900-50557116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:50460518..50461546-chr17:50547645..50548624,5	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8080974	chr17:50553054-50553055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145746763	chr17:50553061-50553062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180682660	chr17:50553090-50553091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141650411	chr17:50553094-50553095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369617065	chr17:50553135-50553136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564520447	chr17:50553155-50553156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185229718	chr17:50553182-50553183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147078086	chr17:50553265-50553266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73989355	chr17:50553284-50553285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138506339	chr17:50553285-50553286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188481975	chr17:50553348-50553349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144070074	chr17:50553366-50553367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560361787	chr17:50553370-50553371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543982872	chr17:50553396-50553397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563975804	chr17:50553416-50553417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532975337	chr17:50553427-50553428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546259655	chr17:50553592-50553593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181507330	chr17:50553629-50553630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73352667	chr17:50553675-50553676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575972740	chr17:50553694-50553695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533566406	chr17:50553695-50553696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9909113	chr17:50553705-50553706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568654168	chr17:50553706-50553707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531262537	chr17:50553731-50553732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551314055	chr17:50553732-50553733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73352670	chr17:50553740-50553741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376951045	chr17:50553763-50553764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541551740	chr17:50553820-50553821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553463188	chr17:50553923-50553924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8067581	chr17:50553933-50553934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34959978	chr17:50553945-50553946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535481333	chr17:50554004-50554005	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186454050	chr17:50554033-50554034	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112547252	chr17:50554101-50554102	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56037582	chr17:50554108-50554109	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62068755	chr17:50554109-50554110	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372534803	chr17:50554119-50554120	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577368135	chr17:50554191-50554192	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191686451	chr17:50554195-50554196	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148380673	chr17:50554209-50554210	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529030184	chr17:50554212-50554213	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542235464	chr17:50554226-50554227	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562537192	chr17:50554241-50554242	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531356189	chr17:50554249-50554250	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141614439	chr17:50554250-50554251	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56801951	chr17:50554279-50554280	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150509608	chr17:50554298-50554299	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547265033	chr17:50554313-50554314	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183458871	chr17:50554337-50554338	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535981507	chr17:50554366-50554367	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50553000-50553400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr17:50553200-50553400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr17:50553400-50554000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:50553800-50554000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr17:50554000-50554400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr17:50554000-50554800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr17:50554400-50555600	Enhancers	Rectal Mucosa Donor 31	rectum

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