Variant report

Variant	esv3490504
Chromosome Location	chr2:134460174-134460682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35593895	chr2:134460228-134460229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191873430	chr2:134460229-134460230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75240477	chr2:134460255-134460256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184051741	chr2:134460267-134460268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34454875	chr2:134460268-134460269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374255142	chr2:134460280-134460281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376327507	chr2:134460281-134460282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370973359	chr2:134460282-134460283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374560951	chr2:134460283-134460284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576402849	chr2:134460335-134460336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543790718	chr2:134460340-134460341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565243226	chr2:134460431-134460432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377355625	chr2:134460514-134460515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532590299	chr2:134460515-134460516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544801843	chr2:134460555-134460556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562468110	chr2:134460563-134460564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13419928	chr2:134460565-134460566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551100372	chr2:134460566-134460567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566414415	chr2:134460569-134460570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527283588	chr2:134460570-134460571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548903626	chr2:134460571-134460572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62167107	chr2:134460575-134460576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368663352	chr2:134460613-134460614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150849678	chr2:134460626-134460627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386650790	chr2:134460629-134460630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555911775	chr2:134460635-134460636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569267077	chr2:134460653-134460654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551903673	chr2:134460654-134460655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548362009	chr2:134460664-134460665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74684070	chr2:134460666-134460667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371424029	chr2:134460667-134460668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568871282	chr2:134460671-134460672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573230136	chr2:134460676-134460677	Weak transcription	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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134460200-134463000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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