Variant report

Variant	esv3359961
Chromosome Location	chr2:152446337-152448247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200053313	chr2:152446563-152446564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200580970	chr2:152446565-152446566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199798472	chr2:152447334-152447335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112571469	chr2:152447361-152447362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111874021	chr2:152447367-152447368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560836580	chr2:152447783-152447784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201384911	chr2:152447810-152447811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532647648	chr2:152447838-152447839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552843115	chr2:152447839-152447840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200531108	chr2:152447845-152447846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375449933	chr2:152447846-152447847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201732607	chr2:152447903-152447904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569248375	chr2:152447904-152447905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531768093	chr2:152447910-152447911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548687115	chr2:152447918-152447919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536426422	chr2:152447978-152447979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568608277	chr2:152448027-152448028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150664377	chr2:152448233-152448234	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536447142	chr2:152448238-152448239	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:152434200-152448200	Weak transcription	HSMMtube	muscle
3	chr2:152434800-152447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:152434800-152448200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:152435600-152465400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:152447600-152448800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:152448200-152448400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:152448200-152448600	Enhancers	Liver	Liver
9	chr2:152448200-152448800	Strong transcription	HSMMtube	muscle

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