Variant report

Variant	esv3444223
Chromosome Location	chr7:66303317-66305265
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	chr7:66302070..66304968-chr7:66306621..66309380,3	MCF-7	breast:
2	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559322990	chr7:66303454-66303455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539367979	chr7:66303490-66303491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572817074	chr7:66303530-66303531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545123265	chr7:66303630-66303631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150710449	chr7:66303665-66303666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530771515	chr7:66303668-66303669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184893418	chr7:66303681-66303682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4717323	chr7:66303740-66303741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs143674012	chr7:66303772-66303773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549077487	chr7:66303780-66303781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566103094	chr7:66303788-66303789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528558111	chr7:66303819-66303820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551900039	chr7:66303820-66303821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571500343	chr7:66303826-66303827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537208817	chr7:66303876-66303877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9638237	chr7:66303885-66303886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567590871	chr7:66303894-66303895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140644041	chr7:66303940-66303941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555478207	chr7:66303973-66303974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369104967	chr7:66303998-66303999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144530457	chr7:66303999-66304000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190135869	chr7:66304001-66304002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544772166	chr7:66304013-66304014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558657849	chr7:66304014-66304015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575418991	chr7:66304015-66304016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544373261	chr7:66304021-66304022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35987451	chr7:66304022-66304023	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs181657208	chr7:66304023-66304024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74439166	chr7:66304027-66304028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551625909	chr7:66304032-66304033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78322474	chr7:66304035-66304036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200230740	chr7:66304036-66304037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377399679	chr7:66304040-66304041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201403071	chr7:66304041-66304042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540551339	chr7:66304042-66304043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370994004	chr7:66304043-66304044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373933144	chr7:66304050-66304051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200988483	chr7:66304051-66304052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201893566	chr7:66304053-66304054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559486720	chr7:66304060-66304061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563858471	chr7:66304062-66304063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528528983	chr7:66304070-66304071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375466952	chr7:66304079-66304080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113729544	chr7:66304090-66304091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186309937	chr7:66304091-66304092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191058671	chr7:66304101-66304102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200162616	chr7:66304117-66304118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182064084	chr7:66304119-66304120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371155746	chr7:66304124-66304125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200435058	chr7:66304132-66304133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66297600-66309000	Weak transcription	Right Atrium	heart
2	chr7:66304400-66305800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:66304600-66304800	Enhancers	HepG2	liver
4	chr7:66304800-66305000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:66304800-66305000	Flanking Active TSS	HepG2	liver
6	chr7:66305000-66305600	Enhancers	HepG2	liver

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