Variant report

Variant	esv3339205
Chromosome Location	chr7:56435883-56438631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 270 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:270 , 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	rs557644937	chr7:56435899-56435900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575914667	chr7:56435908-56435909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536872124	chr7:56435912-56435913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555266380	chr7:56435917-56435918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573718828	chr7:56435928-56435929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71528889	chr7:56435929-56435930	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs71528890	chr7:56435932-56435933	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74793499	chr7:56435943-56435944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540774569	chr7:56435944-56435945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78813900	chr7:56435946-56435947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76197044	chr7:56435958-56435959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191825187	chr7:56435976-56435977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144440074	chr7:56435978-56435979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs369421306	chr7:56435979-56435980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371931596	chr7:56435990-56435991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374710040	chr7:56435991-56435992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201743572	chr7:56435992-56435993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531228824	chr7:56436010-56436011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369058997	chr7:56436017-56436018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536625905	chr7:56436019-56436020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561332102	chr7:56436036-56436037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78644093	chr7:56436041-56436042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79311057	chr7:56436044-56436045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148438441	chr7:56436047-56436048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187514063	chr7:56436053-56436054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375675213	chr7:56436073-56436074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142571618	chr7:56436074-56436075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373892152	chr7:56436086-56436087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546800048	chr7:56436088-56436089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571679098	chr7:56436093-56436094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191347709	chr7:56436102-56436103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550536670	chr7:56436112-56436113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182805431	chr7:56436115-56436116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187131099	chr7:56436117-56436118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192346043	chr7:56436130-56436131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572918696	chr7:56436144-56436145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555593168	chr7:56436157-56436158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542081053	chr7:56436168-56436169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561942089	chr7:56436169-56436170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575657261	chr7:56436183-56436184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544611837	chr7:56436209-56436210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112822094	chr7:56436216-56436217	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533368306	chr7:56436222-56436223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376247035	chr7:56436241-56436242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534784059	chr7:56436248-56436249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370696794	chr7:56436255-56436256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184997485	chr7:56436266-56436267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577792276	chr7:56436267-56436268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190687009	chr7:56436280-56436281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375592511	chr7:56436287-56436288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	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
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56434200-56439400	Weak transcription	Right Atrium	heart
2	chr7:56434800-56436400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56436200-56436800	ZNF genes & repeats	Colonic Mucosa	Colon

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