Variant report

Variant	esv3429545
Chromosome Location	chr2:148835266-148835853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1234404	chr2:148835355-148835356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188266203	chr2:148835596-148835597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556412144	chr2:148835643-148835644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146963257	chr2:148835652-148835653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1234405	chr2:148835688-148835689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538688877	chr2:148835773-148835774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374229568	chr2:148835785-148835786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190664028	chr2:148835815-148835816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575686626	chr2:148835837-148835838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148779600-148844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:148795600-148843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:148799400-148839000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:148799400-148844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:148800000-148844600	Weak transcription	Fetal Lung	lung
6	chr2:148805600-148846200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:148807000-148844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:148812600-148838800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:148812600-148845000	Weak transcription	HSMM	muscle
10	chr2:148816400-148839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:148821200-148857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:148823000-148839200	Weak transcription	Aorta	Aorta
13	chr2:148826000-148861000	Weak transcription	Left Ventricle	heart
14	chr2:148826200-148840600	Weak transcription	Psoas Muscle	Psoas
15	chr2:148826200-148842400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:148826600-148844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:148832600-148842400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:148834200-148844800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:148834600-148856400	Weak transcription	HSMMtube	muscle
20	chr2:148834800-148844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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