Variant report

Variant	nsv607721
Chromosome Location	chr7:85500421-85512030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181841567	chr7:85503834-85503835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144250213	chr7:85503853-85503854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569170642	chr7:85503888-85503889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185897307	chr7:85503910-85503911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548514351	chr7:85503915-85503916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567509160	chr7:85504067-85504068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550272248	chr7:85504089-85504090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12704182	chr7:85504101-85504102	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12704183	chr7:85504117-85504118	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188742990	chr7:85504119-85504120	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570487889	chr7:85504126-85504127	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181258718	chr7:85504129-85504130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12704184	chr7:85504160-85504161	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148743712	chr7:85504184-85504185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12704185	chr7:85504188-85504189	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186363825	chr7:85504270-85504271	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572385656	chr7:85504285-85504286	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12704186	chr7:85504303-85504304	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374852820	chr7:85504308-85504309	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191116601	chr7:85504337-85504338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74407676	chr7:85504353-85504354	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12704187	chr7:85504393-85504394	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144334554	chr7:85504403-85504404	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562632659	chr7:85504417-85504418	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375223085	chr7:85504453-85504454	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532350990	chr7:85504491-85504492	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548474687	chr7:85504493-85504494	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143648101	chr7:85504497-85504498	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35385818	chr7:85504499-85504500	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527263357	chr7:85504513-85504514	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551923914	chr7:85504521-85504522	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570521142	chr7:85504554-85504555	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537498902	chr7:85504557-85504558	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549473027	chr7:85504582-85504583	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10808063	chr7:85504603-85504604	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528668931	chr7:85504774-85504775	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554030882	chr7:85504777-85504778	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572693354	chr7:85504785-85504786	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537601584	chr7:85504787-85504788	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539819122	chr7:85504799-85504800	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112430859	chr7:85504828-85504829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs557820021	chr7:85504832-85504833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576395496	chr7:85504845-85504846	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10808064	chr7:85504888-85504889	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562185119	chr7:85504952-85504953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs10808065	chr7:85504956-85504957	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112615410	chr7:85504994-85504995	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10952862	chr7:85505010-85505011	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35501625	chr7:85505032-85505033	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12704188	chr7:85505077-85505078	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85503800-85504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:85504000-85504800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:85504200-85504800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:85504800-85505000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:85504800-85505200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:85505200-85505400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:85505400-85505600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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