Variant report

Variant	nsv528974
Chromosome Location	chr7:71813660-71838207
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	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:
2	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2944814	chr7:71813660-71813661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113106818	chr7:71813674-71813675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190276835	chr7:71813710-71813711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181041590	chr7:71813713-71813714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556658749	chr7:71813714-71813715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578167158	chr7:71813727-71813728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568206632	chr7:71813745-71813746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560516275	chr7:71813758-71813759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528380091	chr7:71813808-71813809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540117273	chr7:71813829-71813830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562019970	chr7:71813840-71813841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529052911	chr7:71813849-71813850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185530366	chr7:71813904-71813905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190235617	chr7:71813940-71813941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11362427	chr7:71813948-71813949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73362963	chr7:71813993-71813994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550959598	chr7:71814015-71814016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566302636	chr7:71814027-71814028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533785945	chr7:71814099-71814100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555755671	chr7:71814113-71814114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73362965	chr7:71814126-71814127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73362966	chr7:71814161-71814162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563782587	chr7:71814167-71814168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556822353	chr7:71814208-71814209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75923968	chr7:71814214-71814215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539174258	chr7:71814235-71814236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149632055	chr7:71814249-71814250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3032183	chr7:71814267-71814268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372550983	chr7:71814268-71814269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201368746	chr7:71814269-71814270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572305530	chr7:71814285-71814286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59947653	chr7:71814297-71814298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531014482	chr7:71814301-71814302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57310284	chr7:71814305-71814306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533136413	chr7:71814307-71814308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550939346	chr7:71814315-71814316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543032404	chr7:71814322-71814323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555244425	chr7:71814338-71814339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564511303	chr7:71814353-71814354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182127118	chr7:71814355-71814356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185254836	chr7:71814429-71814430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543981075	chr7:71814472-71814473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191926488	chr7:71814490-71814491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562390707	chr7:71814506-71814507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534102708	chr7:71814522-71814523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144403720	chr7:71814564-71814565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148599792	chr7:71814584-71814585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184071639	chr7:71814601-71814602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527257216	chr7:71814603-71814604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77967714	chr7:71814627-71814628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71809200-71813800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:71810400-71813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:71813200-71814200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:71813400-71814000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:71813400-71814200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:71813400-71814600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:71813600-71814200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:71813600-71814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:71813800-71814000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:71813800-71814000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:71814000-71814400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:71814000-71814400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:71814200-71814800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:71814400-71814800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:71814400-71814800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:71814800-71815000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:71821600-71822400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:71821800-71822200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:71821800-71822400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:71822000-71822400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:71822200-71822400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:71822200-71822600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:71831600-71832000	Enhancers	Fetal Heart	heart

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