Variant report

Variant	nsv1018538
Chromosome Location	chr7:57986579-58019983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4789 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4789 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376333521	chr7:57986597-57986598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs559289458	chr7:57986598-57986599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369722009	chr7:57986608-57986609	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79807967	chr7:57986625-57986626	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373907429	chr7:57986626-57986627	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533109779	chr7:57986633-57986634	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199500762	chr7:57986635-57986636	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200661554	chr7:57986637-57986638	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs202031838	chr7:57986639-57986640	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75959568	chr7:57986640-57986641	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76613060	chr7:57986643-57986644	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375944981	chr7:57986646-57986647	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377463245	chr7:57986654-57986655	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570955290	chr7:57986657-57986658	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368902516	chr7:57986660-57986661	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531765947	chr7:57986664-57986665	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550183212	chr7:57986665-57986666	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372432588	chr7:57986670-57986671	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375739479	chr7:57986671-57986672	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568408054	chr7:57986675-57986676	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201473607	chr7:57986677-57986678	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535794369	chr7:57986678-57986679	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181425032	chr7:57986679-57986680	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371458582	chr7:57986681-57986682	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566149465	chr7:57986690-57986691	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377319366	chr7:57986707-57986708	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370941735	chr7:57986711-57986712	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375453039	chr7:57986719-57986720	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368622584	chr7:57986721-57986722	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371307603	chr7:57986727-57986728	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs374679541	chr7:57986728-57986729	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530168109	chr7:57986731-57986732	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs367724200	chr7:57986734-57986735	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs539633565	chr7:57986737-57986738	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557475814	chr7:57986752-57986753	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs372076063	chr7:57986753-57986754	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556842795	chr7:57986757-57986758	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375404396	chr7:57986758-57986759	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368342511	chr7:57986769-57986770	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555092787	chr7:57986770-57986771	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372104165	chr7:57986779-57986780	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375205254	chr7:57986781-57986782	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369761237	chr7:57986785-57986786	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577476891	chr7:57986809-57986810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573536711	chr7:57986810-57986811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576688577	chr7:57986826-57986827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559589064	chr7:57986830-57986831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577808957	chr7:57986837-57986838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545752669	chr7:57986844-57986845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112163062	chr7:57986849-57986850	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:280 , 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	chr7:57970600-58002000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:57979000-58001800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57984200-57987000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:57985800-57986800	ZNF genes & repeats	Liver	Liver
7	chr7:57986000-57986600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr7:57986400-57986600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr7:57986400-57986600	ZNF genes & repeats	HSMMtube	muscle
10	chr7:57986400-57986600	ZNF genes & repeats	HUVEC	blood vessel
11	chr7:57986400-57986800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr7:57986400-57986800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:57986400-57986800	ZNF genes & repeats	NH-A	brain
14	chr7:57986600-57986800	Flanking Active TSS	HSMMtube	muscle
15	chr7:57986800-57990000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:57990000-57990600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:57990600-57994000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:57990800-57996400	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr7:57992200-57996000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:57992400-57996600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr7:57992600-57996200	ZNF genes & repeats	Liver	Liver
22	chr7:57993200-57996000	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr7:57993800-57994600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:57993800-57996400	ZNF genes & repeats	HepG2	liver
25	chr7:57994000-57994400	Active TSS	Aorta	Aorta
26	chr7:57994000-57994400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr7:57994000-57994800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:57994200-57994400	ZNF genes & repeats	Left Ventricle	heart
29	chr7:57994200-57994600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr7:57994200-57994600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
31	chr7:57994200-57994600	Active TSS	Right Atrium	heart
32	chr7:57994200-57994600	ZNF genes & repeats	HUVEC	blood vessel
33	chr7:57994200-57994800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr7:57994200-57996200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr7:57994400-57995600	Weak transcription	Aorta	Aorta
36	chr7:57994400-57995600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:57994600-57995400	Weak transcription	HUVEC	blood vessel
38	chr7:57994800-57995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:57995200-57996400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr7:57995400-57995600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:57995400-57996000	ZNF genes & repeats	HUVEC	blood vessel
42	chr7:57995600-57995800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:57995600-57995800	ZNF genes & repeats	NHLF	lung
44	chr7:57995600-57996000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:57995600-57996000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:57995600-57996000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:57995600-57996000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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