Variant report

Variant	esv3345235
Chromosome Location	chr2:152448342-152451436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552847899	chr2:152448375-152448376	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566670037	chr2:152448379-152448380	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538524105	chr2:152448491-152448492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558447104	chr2:152448526-152448527	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139930220	chr2:152448567-152448568	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543836428	chr2:152448576-152448577	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554231162	chr2:152448589-152448590	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371004065	chr2:152448607-152448608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374609793	chr2:152448608-152448609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200541641	chr2:152448640-152448641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372409953	chr2:152448642-152448643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560440121	chr2:152448670-152448671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532755200	chr2:152448671-152448672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111508726	chr2:152448768-152448769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539039729	chr2:152448784-152448785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200793308	chr2:152448792-152448793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546158995	chr2:152449605-152449606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2288217	chr2:152449688-152449689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371915921	chr2:152450082-152450083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563211185	chr2:152450095-152450096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531729514	chr2:152450149-152450150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548650238	chr2:152450154-152450155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568470795	chr2:152450160-152450161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527746468	chr2:152450810-152450811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547888290	chr2:152450855-152450856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144179947	chr2:152450907-152450908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566522551	chr2:152450949-152450950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538853596	chr2:152450997-152450998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200084750	chr2:152451004-152451005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568850372	chr2:152451060-152451061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201792803	chr2:152451261-152451262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374776000	chr2:152451263-152451264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554096247	chr2:152451316-152451317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201008053	chr2:152451345-152451346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533617088	chr2:152451361-152451362	Weak 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152434000-152466200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:152435600-152465400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:152447600-152448800	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:152448200-152448400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:152448200-152448600	Enhancers	Liver	Liver
6	chr2:152448200-152448800	Strong transcription	HSMMtube	muscle
7	chr2:152448400-152448800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:152448800-152460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle

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