Variant report

Variant	nsv964351
Chromosome Location	chr2:142837611-142847486
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	chr2:142837019..142839194-chr2:142839931..142842299,2	MCF-7	breast:
2	chr2:142837019..142839194-chr2:142839931..142842299,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113280513	chr2:142837665-142837666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201175445	chr2:142837668-142837669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62702462	chr2:142837678-142837679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557722710	chr2:142837679-142837680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62158863	chr2:142837682-142837683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16848074	chr2:142837765-142837766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552577082	chr2:142837869-142837870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78094578	chr2:142837873-142837874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7609479	chr2:142837892-142837893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs529045797	chr2:142837916-142837917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183996254	chr2:142837967-142837968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542200420	chr2:142837984-142837985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562478070	chr2:142837987-142837988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531425095	chr2:142838020-142838021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551441140	chr2:142838025-142838026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146722151	chr2:142838063-142838064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188725452	chr2:142838068-142838069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181512527	chr2:142838081-142838082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557528091	chr2:142838093-142838094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186877280	chr2:142838098-142838099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67436974	chr2:142838099-142838100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202159850	chr2:142838102-142838103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78604613	chr2:142838178-142838179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398090725	chr2:142838179-142838180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373651827	chr2:142838194-142838195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546879660	chr2:142844626-142844627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567011314	chr2:142844688-142844689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10179879	chr2:142844691-142844692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549040157	chr2:142844722-142844723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568990289	chr2:142844723-142844724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537887008	chr2:142844725-142844726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558123025	chr2:142844750-142844751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4662373	chr2:142844780-142844781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200805841	chr2:142844852-142844853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140460458	chr2:142844855-142844856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112041271	chr2:142844856-142844857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs33939523	chr2:142844857-142844858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35602896	chr2:142844858-142844859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62155560	chr2:142844859-142844860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534047517	chr2:142844882-142844883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35607772	chr2:142844918-142844919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191659678	chr2:142844929-142844930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200968496	chr2:142844935-142844936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370556357	chr2:142844936-142844937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374373420	chr2:142844937-142844938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555480274	chr2:142844991-142844992	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142829400-142838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:142844600-142845000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links