Variant report

Variant	nsv616030
Chromosome Location	chr9:141072118-141088641
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: 247 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538638081	chr9:141072118-141072119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2507128	chr9:141072119-141072120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2885410	chr9:141072133-141072134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147431721	chr9:141072139-141072140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2507127	chr9:141072141-141072142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145266438	chr9:141072180-141072181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75639167	chr9:141072194-141072195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115666963	chr9:141072197-141072198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116801790	chr9:141072310-141072311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79236064	chr9:141072316-141072317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200519256	chr9:141072318-141072319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371265555	chr9:141072321-141072322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541968139	chr9:141072377-141072378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2434925	chr9:141072394-141072395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561775130	chr9:141072399-141072400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371350557	chr9:141073371-141073372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375961225	chr9:141073381-141073382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190431385	chr9:141073391-141073392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192687117	chr9:141073396-141073397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371688034	chr9:141073403-141073404	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537774912	chr9:141073426-141073427	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550972188	chr9:141073427-141073428	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375044986	chr9:141073483-141073484	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567598441	chr9:141073491-141073492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145953387	chr9:141073492-141073493	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191733144	chr9:141073495-141073496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566956975	chr9:141073504-141073505	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2925493	chr9:141073514-141073515	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534478543	chr9:141073533-141073534	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549779197	chr9:141073586-141073587	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2434912	chr9:141073587-141073588	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112551523	chr9:141073605-141073606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113199190	chr9:141073623-141073624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556909509	chr9:141073650-141073651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547595167	chr9:141073674-141073675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111776947	chr9:141073675-141073676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10780203	chr9:141073676-141073677	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs374861067	chr9:141073680-141073681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2434911	chr9:141073700-141073701	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116498706	chr9:141073723-141073724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183542839	chr9:141073728-141073729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2507125	chr9:141073783-141073784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116371375	chr9:141073796-141073797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565505984	chr9:141073797-141073798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115583926	chr9:141073812-141073813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371260311	chr9:141073835-141073836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2925492	chr9:141073836-141073837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2925491	chr9:141073851-141073852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368922933	chr9:141073880-141073881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76052439	chr9:141073904-141073905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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:11 , 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
4	chr9:141076600-141077200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:141076600-141077400	Enhancers	HMEC	breast
6	chr9:141076600-141077400	Enhancers	NHEK	skin
7	chr9:141081400-141081600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr9:141081400-141081600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr9:141081400-141081600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:141087400-141087600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:141087600-141087800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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