Variant report

Variant	nsv1019507
Chromosome Location	chr7:57974712-58019983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6267 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:6267 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78970109	chr7:57974722-57974723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76225459	chr7:57974733-57974734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564655734	chr7:57974734-57974735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76798210	chr7:57974741-57974742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79987960	chr7:57974744-57974745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80293135	chr7:57974747-57974748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75364682	chr7:57974748-57974749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79413423	chr7:57974751-57974752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572017600	chr7:57974756-57974757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78344408	chr7:57974757-57974758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77607522	chr7:57974758-57974759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112631339	chr7:57974766-57974767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113753628	chr7:57974772-57974773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62460653	chr7:57974778-57974779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542687112	chr7:57974779-57974780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62461564	chr7:57974795-57974796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80063577	chr7:57974796-57974797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375898539	chr7:57974799-57974800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201365566	chr7:57974810-57974811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180806658	chr7:57974812-57974813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199879014	chr7:57974819-57974820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560785984	chr7:57974822-57974823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186197843	chr7:57974845-57974846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71272065	chr7:57974872-57974873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369277326	chr7:57974875-57974876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200831628	chr7:57974881-57974882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572804145	chr7:57974888-57974889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539794450	chr7:57974899-57974900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559199773	chr7:57974913-57974914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565225396	chr7:57974918-57974919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111714236	chr7:57974919-57974920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530099881	chr7:57974932-57974933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111637310	chr7:57974936-57974937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201848160	chr7:57974941-57974942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111494199	chr7:57974943-57974944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200634460	chr7:57974946-57974947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78213487	chr7:57974954-57974955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145659441	chr7:57974956-57974957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368253388	chr7:57974977-57974978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550827432	chr7:57974978-57974979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200969809	chr7:57974994-57974995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141111445	chr7:57974997-57974998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181258260	chr7:57975006-57975007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200338495	chr7:57975027-57975028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185714717	chr7:57975045-57975046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529824061	chr7:57975053-57975054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111310218	chr7:57975060-57975061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113619397	chr7:57975067-57975068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549472734	chr7:57975069-57975070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144549779	chr7:57975072-57975073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:57959600-58001600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:57961000-57976800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:57970600-58002000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr7:57973800-57975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:57977000-57981000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr7:57977400-57977600	ZNF genes & repeats	HepG2	liver
8	chr7:57977400-57978000	Active TSS	Aorta	Aorta
9	chr7:57977600-57978600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr7:57979000-58001800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr7:57984000-57985400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:57984200-57987000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:57985800-57986800	ZNF genes & repeats	Liver	Liver
14	chr7:57986000-57986600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr7:57986400-57986600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr7:57986400-57986600	ZNF genes & repeats	HSMMtube	muscle
17	chr7:57986400-57986600	ZNF genes & repeats	HUVEC	blood vessel
18	chr7:57986400-57986800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr7:57986400-57986800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:57986400-57986800	ZNF genes & repeats	NH-A	brain
21	chr7:57986600-57986800	Flanking Active TSS	HSMMtube	muscle
22	chr7:57986800-57990000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:57990000-57990600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:57990600-57994000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:57990800-57996400	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr7:57992200-57996000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:57992400-57996600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr7:57992600-57996200	ZNF genes & repeats	Liver	Liver
29	chr7:57993200-57996000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr7:57993800-57994600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:57993800-57996400	ZNF genes & repeats	HepG2	liver
32	chr7:57994000-57994400	Active TSS	Aorta	Aorta
33	chr7:57994000-57994400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr7:57994000-57994800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:57994200-57994400	ZNF genes & repeats	Left Ventricle	heart
36	chr7:57994200-57994600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr7:57994200-57994600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
38	chr7:57994200-57994600	Active TSS	Right Atrium	heart
39	chr7:57994200-57994600	ZNF genes & repeats	HUVEC	blood vessel
40	chr7:57994200-57994800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
41	chr7:57994200-57996200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr7:57994400-57995600	Weak transcription	Aorta	Aorta
43	chr7:57994400-57995600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:57994600-57995400	Weak transcription	HUVEC	blood vessel
45	chr7:57994800-57995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:57995200-57996400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr7:57995400-57995600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:57995400-57996000	ZNF genes & repeats	HUVEC	blood vessel
49	chr7:57995600-57995800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:57995600-57995800	ZNF genes & repeats	NHLF	lung

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