Variant report

Variant	nsv966793
Chromosome Location	chr7:56230862-56233275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569069922	chr7:56230880-56230881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77970681	chr7:56230906-56230907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536380905	chr7:56230919-56230920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554349247	chr7:56230932-56230933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs816243	chr7:56230956-56230957	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533525118	chr7:56230959-56230960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs193043491	chr7:56230962-56230963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530887958	chr7:56230980-56230981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544496089	chr7:56230981-56230982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549402346	chr7:56230985-56230986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138941770	chr7:56231012-56231013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs816242	chr7:56231061-56231062	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560350423	chr7:56231064-56231065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527708531	chr7:56231113-56231114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs552246866	chr7:56231126-56231127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185637650	chr7:56231133-56231134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532494812	chr7:56231136-56231137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550872219	chr7:56231178-56231179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111563660	chr7:56231226-56231227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536414594	chr7:56231282-56231283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150824961	chr7:56231302-56231303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566396778	chr7:56231315-56231316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187999226	chr7:56231351-56231352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558312247	chr7:56231352-56231353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192470456	chr7:56231374-56231375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559846791	chr7:56231384-56231385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111245542	chr7:56231393-56231394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113118225	chr7:56231394-56231395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549533089	chr7:56231401-56231402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556424794	chr7:56231405-56231406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372606034	chr7:56231469-56231470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574709176	chr7:56231480-56231481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553275072	chr7:56231483-56231484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528654841	chr7:56231507-56231508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542030542	chr7:56231517-56231518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372381858	chr7:56231625-56231626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183938880	chr7:56231626-56231627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572486945	chr7:56231638-56231639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546275135	chr7:56231672-56231673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548411081	chr7:56231764-56231765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188262851	chr7:56231790-56231791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375929550	chr7:56231795-56231796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs860114	chr7:56231799-56231800	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56229200-56231800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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