Variant report

Variant	esv3458373
Chromosome Location	chr2:134544275-134544624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370679176	chr2:134544290-134544291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs202243069	chr2:134544292-134544293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199886965	chr2:134544293-134544294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11689967	chr2:134544296-134544297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113001069	chr2:134544298-134544299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541862642	chr2:134544301-134544302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563659639	chr2:134544302-134544303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530802925	chr2:134544306-134544307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552499485	chr2:134544339-134544340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570789179	chr2:134544373-134544374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528697014	chr2:134544379-134544380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546759548	chr2:134544381-134544382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552509864	chr2:134544389-134544390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186061628	chr2:134544390-134544391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12691844	chr2:134544430-134544431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369845832	chr2:134544442-134544443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28456146	chr2:134544588-134544589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200295495	chr2:134544606-134544607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13010074	chr2:134544607-134544608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111896547	chr2:134544610-134544611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134535400-134544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134538200-134547600	Weak transcription	Fetal Heart	heart
3	chr2:134542600-134545800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:134542800-134544600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134542800-134547600	Weak transcription	HUVEC	blood vessel
6	chr2:134544000-134549400	Enhancers	Osteobl	bone
7	chr2:134544600-134545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:134544600-134546600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:134544600-134546600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:134544600-134546800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:134544600-134549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:134544600-134549800	Enhancers	NHDF-Ad	bronchial

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