Variant report

Variant	esv3477245
Chromosome Location	chr7:56282742-56287220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535705518	chr7:56284803-56284804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377107611	chr7:56284845-56284846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs116482742	chr7:56284867-56284868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142025456	chr7:56285020-56285021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147319925	chr7:56285050-56285051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557927242	chr7:56285053-56285054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569617494	chr7:56285054-56285055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62460093	chr7:56285057-56285058	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543055250	chr7:56285065-56285066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140993300	chr7:56285068-56285069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529578010	chr7:56285076-56285077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145043846	chr7:56285134-56285135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73349546	chr7:56285183-56285184	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533396842	chr7:56285185-56285186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565246041	chr7:56286400-56286401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371091228	chr7:56286406-56286407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532535120	chr7:56286418-56286419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571936928	chr7:56286423-56286424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs73349560	chr7:56286440-56286441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569851811	chr7:56286473-56286474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73699330	chr7:56286520-56286521	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568843072	chr7:56286544-56286545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73349561	chr7:56286556-56286557	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567375045	chr7:56286580-56286581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534377595	chr7:56286588-56286589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552632589	chr7:56286617-56286618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs59455941	chr7:56286638-56286639	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368106578	chr7:56286640-56286641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs59858573	chr7:56286641-56286642	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557270933	chr7:56286664-56286665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189471777	chr7:56286719-56286720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543209553	chr7:56286727-56286728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs58832378	chr7:56286748-56286749	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs58967262	chr7:56286769-56286770	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569183032	chr7:56286772-56286773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181858898	chr7:56286798-56286799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56284800-56285200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:56286400-56286800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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