Variant report

Variant	esv3359916
Chromosome Location	chr2:134411234-134411742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552679524	chr2:134411268-134411269	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13412577	chr2:134411293-134411294	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541467913	chr2:134411328-134411329	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115396943	chr2:134411393-134411394	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142780786	chr2:134411497-134411498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547806872	chr2:134411557-134411558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546085763	chr2:134411594-134411595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372107888	chr2:134411612-134411613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564090004	chr2:134411615-134411616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528308384	chr2:134411618-134411619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371871788	chr2:134411683-134411684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559920146	chr2:134411716-134411717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs13015887	chr2:134411720-134411721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs58763272	chr2:134411721-134411722	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548648333	chr2:134411732-134411733	Weak transcription ZNF genes & repeats	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134399400-134416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134402000-134414800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:134402200-134415200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:134409600-134415800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:134410000-134415000	Weak transcription	NHEK	skin
6	chr2:134410600-134411400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:134410800-134413000	Weak transcription	NHDF-Ad	bronchial
8	chr2:134410800-134414800	Weak transcription	Osteobl	bone
9	chr2:134410800-134415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:134411200-134412600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:134411200-134416200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:134411200-134429800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:134411400-134413000	Weak transcription	Fetal Muscle Leg	muscle

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