Variant report

Variant	nsv962117
Chromosome Location	chr2:141296712-141299620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:141295151..141297783-chr2:141298747..141300917,2	MCF-7	breast:
2	chr2:141295151..141297783-chr2:141298747..141300917,2	MCF-7	breast:
3	chr2:141291143..141292824-chr2:141297883..141300414,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13398598	chr2:141296747-141296748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534686557	chr2:141296754-141296755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141544217	chr2:141296773-141296774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541730072	chr2:141296774-141296775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186675855	chr2:141296790-141296791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554044933	chr2:141296796-141296797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3828939	chr2:141296837-141296838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs3793154	chr2:141296901-141296902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191164046	chr2:141296903-141296904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183007837	chr2:141296909-141296910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186807484	chr2:141296915-141296916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16844198	chr2:141296968-141296969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191321103	chr2:141296969-141296970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183447460	chr2:141296991-141296992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150532128	chr2:141297022-141297023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187834219	chr2:141297038-141297039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549973265	chr2:141297039-141297040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563367480	chr2:141297086-141297087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532162755	chr2:141297091-141297092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193185006	chr2:141297115-141297116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571359552	chr2:141297116-141297117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13414650	chr2:141297142-141297143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17526381	chr2:141297154-141297155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539450451	chr2:141297155-141297156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563573783	chr2:141297210-141297211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13414734	chr2:141297224-141297225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536572284	chr2:141297231-141297232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530454911	chr2:141297240-141297241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115907810	chr2:141297245-141297246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16844202	chr2:141297248-141297249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs16844206	chr2:141297317-141297318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185169092	chr2:141297322-141297323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555995059	chr2:141297350-141297351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572132951	chr2:141297358-141297359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16844208	chr2:141297378-141297379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560697164	chr2:141297392-141297393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561430772	chr2:141298304-141298305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11431205	chr2:141298313-141298314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397751718	chr2:141298314-141298315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76404367	chr2:141298315-141298316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530045474	chr2:141298364-141298365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183805796	chr2:141298385-141298386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139068507	chr2:141298433-141298434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6729619	chr2:141298467-141298468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546704562	chr2:141298498-141298499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139096661	chr2:141298501-141298502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376706943	chr2:141298514-141298515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149956583	chr2:141298518-141298519	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141287600-141297200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:141294200-141297000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:141296600-141297400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:141296800-141297400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:141297000-141297200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:141297200-141297400	Enhancers	Brain Substantia Nigra	brain
7	chr2:141298200-141298600	Enhancers	Fetal Heart	heart

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