Variant report

Variant	nsv961745
Chromosome Location	chr2:188553615-188560430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188554226..188556067-chr2:188557220..188559283,2	K562	blood:
2	chr2:188554226..188556067-chr2:188557220..188559283,2	K562	blood:
3	chr2:188549053..188550995-chr2:188552944..188555111,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs570810896	chr2:188553637-188553638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528497131	chr2:188553643-188553644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546983055	chr2:188553652-188553653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566006762	chr2:188553661-188553662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35161317	chr2:188553671-188553672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536533286	chr2:188553672-188553673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184113404	chr2:188553715-188553716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569828990	chr2:188553785-188553786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188795490	chr2:188553807-188553808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558625385	chr2:188553816-188553817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530011391	chr2:188553850-188553851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181485864	chr2:188553855-188553856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184172500	chr2:188553856-188553857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552531958	chr2:188553874-188553875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548358712	chr2:188553898-188553899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574829488	chr2:188553957-188553958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542110721	chr2:188553961-188553962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563589034	chr2:188554008-188554009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531138732	chr2:188554020-188554021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546039879	chr2:188554039-188554040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564621654	chr2:188554147-188554148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528550481	chr2:188554151-188554152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547050773	chr2:188554186-188554187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568454322	chr2:188554193-188554194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376601911	chr2:188554230-188554231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189497401	chr2:188554238-188554239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527522012	chr2:188554240-188554241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537263734	chr2:188554245-188554246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10931303	chr2:188554359-188554360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs76645179	chr2:188554381-188554382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368695548	chr2:188554404-188554405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369205936	chr2:188554488-188554489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552687020	chr2:188554539-188554540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540737807	chr2:188554567-188554568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552593363	chr2:188554659-188554660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574094207	chr2:188554661-188554662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535038417	chr2:188554677-188554678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372628186	chr2:188554792-188554793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557242164	chr2:188554818-188554819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116634225	chr2:188554823-188554824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375646320	chr2:188554845-188554846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546400146	chr2:188554846-188554847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564506545	chr2:188554859-188554860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573326194	chr2:188554866-188554867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114173298	chr2:188554896-188554897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558630622	chr2:188554916-188554917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556438205	chr2:188554956-188554957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562116030	chr2:188554965-188554966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529312499	chr2:188554982-188554983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142601915	chr2:188555001-188555002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188549400-188553800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:188551400-188562600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:188551400-188564000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:188553800-188554400	Enhancers	A549	lung
5	chr2:188553800-188554600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:188553800-188554600	Enhancers	HUVEC	blood vessel
7	chr2:188554200-188554600	Enhancers	NHDF-Ad	bronchial
8	chr2:188554600-188558800	Weak transcription	HUVEC	blood vessel
9	chr2:188554600-188559200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:188558800-188559800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:188558800-188560000	Enhancers	HUVEC	blood vessel
12	chr2:188559200-188559600	Enhancers	Muscle Satellite Cultured Cells	--

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