Variant report

Variant	esv3406929
Chromosome Location	chr7:80311216-80314139
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	chr7:80309635..80311970-chr7:80327304..80328967,2	MCF-7	breast:
2	chr7:80057501..80059024-chr7:80309987..80311233,7	MCF-7	breast:

Extended variants
information (count: 275 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562516635	chr7:80311244-80311245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187752898	chr7:80311290-80311291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567946017	chr7:80311353-80311354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192637253	chr7:80311375-80311376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374857847	chr7:80311381-80311382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573400861	chr7:80311390-80311391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184900818	chr7:80311421-80311422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533153134	chr7:80311422-80311423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372983277	chr7:80311498-80311499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566610158	chr7:80311514-80311515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113991395	chr7:80311522-80311523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555462883	chr7:80311555-80311556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569316218	chr7:80311573-80311574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188115634	chr7:80311574-80311575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17154309	chr7:80311611-80311612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541341048	chr7:80311631-80311632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17154312	chr7:80311647-80311648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201940133	chr7:80311670-80311671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192182567	chr7:80311695-80311696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560990698	chr7:80311714-80311715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554648572	chr7:80311721-80311722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573703189	chr7:80311725-80311726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542712563	chr7:80311728-80311729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17154316	chr7:80311752-80311753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17154320	chr7:80311794-80311795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149545390	chr7:80311795-80311796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565025252	chr7:80311834-80311835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144120064	chr7:80311882-80311883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184177899	chr7:80311945-80311946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566499674	chr7:80311960-80311961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529263797	chr7:80311970-80311971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549165677	chr7:80312001-80312002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199948106	chr7:80312005-80312006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201664985	chr7:80312006-80312007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569335385	chr7:80312015-80312016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146064305	chr7:80312017-80312018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538050001	chr7:80312023-80312024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577079774	chr7:80312024-80312025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551989628	chr7:80312033-80312034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113762758	chr7:80312041-80312042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571828493	chr7:80312048-80312049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200223785	chr7:80312052-80312053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554522476	chr7:80312054-80312055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573641755	chr7:80312055-80312056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543395706	chr7:80312060-80312061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12532047	chr7:80312062-80312063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143337214	chr7:80312064-80312065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552284547	chr7:80312071-80312072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201037922	chr7:80312078-80312079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577133804	chr7:80312090-80312091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Williams Syndrome	20824207	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
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80296400-80315800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:80310600-80315600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:80311200-80311400	Enhancers	Pancreatic Islets	Pancreatic Islet

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