Variant report

Variant	esv2226994
Chromosome Location	chr2:134394973-134395397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528170259	chr2:134395047-134395048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59490634	chr2:134395066-134395067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71658879	chr2:134395072-134395073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144956115	chr2:134395077-134395078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548168720	chr2:134395142-134395143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200814246	chr2:134395155-134395156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568508840	chr2:134395156-134395157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7561974	chr2:134395172-134395173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs59219744	chr2:134395211-134395212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536846797	chr2:134395249-134395250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566644917	chr2:134395255-134395256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141380503	chr2:134395270-134395271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538706873	chr2:134395301-134395302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542000788	chr2:134395313-134395314	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134392000-134396600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:134392000-134397800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:134392200-134395600	Enhancers	Brain Substantia Nigra	brain
4	chr2:134392200-134396600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:134392200-134397200	Weak transcription	HMEC	breast
6	chr2:134392200-134398400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:134392200-134398800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:134392800-134399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:134393000-134397000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:134394200-134395000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:134394200-134396600	Weak transcription	NHEK	skin
12	chr2:134394400-134396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:134394400-134396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:134394400-134396800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:134394400-134397000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:134395000-134399600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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