Variant report

Variant	nsv442569
Chromosome Location	chr9:141071940-141075554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:811815..813428-chr9:141073371..141075327,2	K562	blood:

Variant related genes	Relation type
ENSG00000230368	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535994654	chr9:141072003-141072004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138837008	chr9:141072019-141072020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56828329	chr9:141072024-141072025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2361972	chr9:141072058-141072059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535052639	chr9:141072060-141072061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2361973	chr9:141072067-141072068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558160280	chr9:141072072-141072073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184832462	chr9:141072079-141072080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188436313	chr9:141072090-141072091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180850320	chr9:141072111-141072112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538183609	chr9:141072115-141072116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375784404	chr9:141072116-141072117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376704612	chr9:141072117-141072118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538638081	chr9:141072118-141072119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2507128	chr9:141072119-141072120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2885410	chr9:141072133-141072134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147431721	chr9:141072139-141072140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2507127	chr9:141072141-141072142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145266438	chr9:141072180-141072181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75639167	chr9:141072194-141072195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115666963	chr9:141072197-141072198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116801790	chr9:141072310-141072311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79236064	chr9:141072316-141072317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200519256	chr9:141072318-141072319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371265555	chr9:141072321-141072322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541968139	chr9:141072377-141072378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2434925	chr9:141072394-141072395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561775130	chr9:141072399-141072400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371350557	chr9:141073371-141073372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375961225	chr9:141073381-141073382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190431385	chr9:141073391-141073392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192687117	chr9:141073396-141073397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371688034	chr9:141073403-141073404	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537774912	chr9:141073426-141073427	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550972188	chr9:141073427-141073428	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375044986	chr9:141073483-141073484	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567598441	chr9:141073491-141073492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145953387	chr9:141073492-141073493	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191733144	chr9:141073495-141073496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566956975	chr9:141073504-141073505	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2925493	chr9:141073514-141073515	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534478543	chr9:141073533-141073534	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549779197	chr9:141073586-141073587	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2434912	chr9:141073587-141073588	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112551523	chr9:141073605-141073606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113199190	chr9:141073623-141073624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556909509	chr9:141073650-141073651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547595167	chr9:141073674-141073675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111776947	chr9:141073675-141073676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10780203	chr9:141073676-141073677	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:141072000-141072400	Enhancers	Brain Anterior Caudate	brain
2	chr9:141073400-141073600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:141074200-141074400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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