Variant report

Variant	nsv1026539
Chromosome Location	chr7:56756273-56786388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191876594	chr7:56756285-56756286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570131121	chr7:56756294-56756295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113075358	chr7:56756336-56756337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112465827	chr7:56761005-56761006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146989306	chr7:56761017-56761018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529010008	chr7:56761018-56761019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183494170	chr7:56761026-56761027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190018345	chr7:56761086-56761087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs71550921	chr7:56761116-56761117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs551686146	chr7:56761126-56761127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112916595	chr7:56761138-56761139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544950976	chr7:56761153-56761154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558373472	chr7:56761188-56761189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572155833	chr7:56761221-56761222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112618013	chr7:56761228-56761229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371697679	chr7:56761239-56761240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570731458	chr7:56761283-56761284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2331282	chr7:56761313-56761314	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4297000	chr7:56761392-56761393	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140901123	chr7:56761426-56761427	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62460185	chr7:56761427-56761428	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553941560	chr7:56761429-56761430	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572345356	chr7:56761455-56761456	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs539722479	chr7:56761483-56761484	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558401556	chr7:56761527-56761528	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576681663	chr7:56761560-56761561	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376766914	chr7:56761664-56761665	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199537774	chr7:56761679-56761680	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5884465	chr7:56761680-56761681	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537309718	chr7:56761683-56761684	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57196960	chr7:56761684-56761685	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11446764	chr7:56761693-56761694	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1818503	chr7:56761701-56761702	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561533068	chr7:56761733-56761734	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573779874	chr7:56761810-56761811	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181273138	chr7:56761812-56761813	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559569150	chr7:56761867-56761868	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201850436	chr7:56761905-56761906	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200486027	chr7:56761985-56761986	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201617962	chr7:56761986-56761987	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533187995	chr7:56762064-56762065	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187095273	chr7:56762070-56762071	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181184454	chr7:56762117-56762118	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531849630	chr7:56762162-56762163	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76317741	chr7:56762168-56762169	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563561582	chr7:56762179-56762180	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112207879	chr7:56762194-56762195	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138747776	chr7:56762212-56762213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56317738	chr7:56762213-56762214	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568162892	chr7:56762246-56762247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56752000-56756400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:56761000-56761400	ZNF genes & repeats	Dnd41	blood
3	chr7:56761400-56761600	Flanking Active TSS	Dnd41	blood
4	chr7:56761600-56762200	Enhancers	Dnd41	blood
5	chr7:56761600-56762400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr7:56762200-56763200	Weak transcription	Dnd41	blood
7	chr7:56763800-56765400	Enhancers	Dnd41	blood
8	chr7:56771600-56772000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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