Variant report

Variant	nsv934287
Chromosome Location	chr7:33470390-33512880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33499224..33499840-chr7:33756036..33756556,2	MCF-7	breast:
2	chr7:33498720..33499554-chr7:33783613..33784456,2	MCF-7	breast:
3	chr7:33282661..33283550-chr7:33499199..33499750,2	MCF-7	breast:
4	chr7:33225084..33225594-chr7:33499029..33499648,2	MCF-7	breast:
5	chr7:33480819..33483351-chr7:33485248..33487940,2	K562	blood:
6	chr7:33480819..33483351-chr7:33485248..33487940,2	K562	blood:
7	chr7:33373710..33374867-chr7:33498631..33499702,4	MCF-7	breast:

Extended variants
information (count: 1577 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1577 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542758297	chr7:33470398-33470399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540911657	chr7:33470424-33470425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191802667	chr7:33470455-33470456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113041122	chr7:33470460-33470461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565002896	chr7:33470521-33470522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189043306	chr7:33470527-33470528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550489917	chr7:33470559-33470560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114935543	chr7:33470580-33470581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529813446	chr7:33470625-33470626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182191362	chr7:33470641-33470642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566582938	chr7:33470653-33470654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533736383	chr7:33470667-33470668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185486215	chr7:33470693-33470694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112529681	chr7:33470718-33470719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139637918	chr7:33470736-33470737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190688919	chr7:33470777-33470778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371215862	chr7:33470779-33470780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201562924	chr7:33470820-33470821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539359290	chr7:33470855-33470856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557269789	chr7:33470866-33470867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575386362	chr7:33470871-33470872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13244009	chr7:33470879-33470880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554607328	chr7:33470898-33470899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145358598	chr7:33470919-33470920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543052261	chr7:33470963-33470964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13231154	chr7:33471011-33471012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565317711	chr7:33471035-33471036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374885721	chr7:33471046-33471047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180753526	chr7:33471051-33471052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570257603	chr7:33471071-33471072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534690558	chr7:33471097-33471098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546511697	chr7:33471099-33471100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370171356	chr7:33471138-33471139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568210227	chr7:33471214-33471215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544543974	chr7:33471223-33471224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75522367	chr7:33471258-33471259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372285260	chr7:33471293-33471294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376589109	chr7:33471344-33471345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148784903	chr7:33471351-33471352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185080119	chr7:33471369-33471370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34771661	chr7:33471386-33471387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560261823	chr7:33471388-33471389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369439090	chr7:33471437-33471438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527411284	chr7:33471438-33471439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373772786	chr7:33471465-33471466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551875081	chr7:33471499-33471500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377506827	chr7:33471515-33471516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570474652	chr7:33471576-33471577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552221500	chr7:33471686-33471687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537444810	chr7:33471693-33471694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33454800-33476800	Weak transcription	Aorta	Aorta
2	chr7:33463000-33476800	Weak transcription	Psoas Muscle	Psoas
3	chr7:33465600-33472600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:33468400-33478600	Weak transcription	Pancreas	Pancrea
5	chr7:33472400-33473200	Enhancers	NHEK	skin
6	chr7:33472400-33473600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:33472600-33472800	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:33472600-33473200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:33472800-33473200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:33472800-33473200	Enhancers	Brain Angular Gyrus	brain
11	chr7:33472800-33473200	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr7:33472800-33473200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:33473000-33473200	Enhancers	Brain Anterior Caudate	brain
14	chr7:33473000-33473200	Enhancers	Fetal Lung	lung
15	chr7:33473000-33473400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:33473200-33474800	Weak transcription	NHEK	skin
17	chr7:33473200-33478000	Weak transcription	Fetal Lung	lung
18	chr7:33473400-33480000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:33473600-33474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:33474800-33475400	Enhancers	NHEK	skin
21	chr7:33475000-33475200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:33475200-33475600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:33475400-33516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:33476800-33477000	ZNF genes & repeats	Aorta	Aorta
25	chr7:33476800-33477000	Enhancers	Psoas Muscle	Psoas
26	chr7:33477000-33477400	Weak transcription	Psoas Muscle	Psoas
27	chr7:33477000-33478600	Weak transcription	Aorta	Aorta
28	chr7:33477400-33477600	Enhancers	Psoas Muscle	Psoas
29	chr7:33477600-33483600	Weak transcription	Psoas Muscle	Psoas
30	chr7:33478000-33478400	Enhancers	Fetal Lung	lung
31	chr7:33478400-33481800	Weak transcription	Fetal Lung	lung
32	chr7:33478600-33478800	Enhancers	Aorta	Aorta
33	chr7:33479400-33479600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:33480000-33480400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:33481800-33489000	Enhancers	Fetal Lung	lung
36	chr7:33483200-33484200	Enhancers	Brain Germinal Matrix	brain
37	chr7:33483600-33483800	Enhancers	Psoas Muscle	Psoas
38	chr7:33483600-33484400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:33483600-33484600	Enhancers	Brain Substantia Nigra	brain
40	chr7:33483600-33484600	Enhancers	Fetal Stomach	stomach
41	chr7:33483600-33484800	Enhancers	Ovary	ovary
42	chr7:33483600-33485000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:33483800-33484400	Weak transcription	Psoas Muscle	Psoas
44	chr7:33483800-33484800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:33484000-33484600	Enhancers	Adipose Nuclei	Adipose
46	chr7:33484200-33484600	Enhancers	Colon Smooth Muscle	Colon
47	chr7:33484200-33484600	Enhancers	Fetal Muscle Leg	muscle
48	chr7:33484200-33484800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr7:33484200-33485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:33484200-33485000	Enhancers	Skeletal Muscle Female	skeletal muscle

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