Variant report

Variant	esv3432651
Chromosome Location	chr2:151650806-151654404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12694136	chr2:151650817-151650818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58587939	chr2:151650857-151650858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185947777	chr2:151650871-151650872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536117608	chr2:151650888-151650889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190317941	chr2:151650970-151650971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13398521	chr2:151650971-151650972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143478788	chr2:151651044-151651045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533154383	chr2:151651066-151651067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183168147	chr2:151651067-151651068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563611002	chr2:151651091-151651092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187697185	chr2:151651118-151651119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190964269	chr2:151651165-151651166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537996378	chr2:151651179-151651180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367925724	chr2:151651195-151651196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145861827	chr2:151651199-151651200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184053018	chr2:151651214-151651215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187740361	chr2:151651288-151651289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549875171	chr2:151651305-151651306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569621802	chr2:151651314-151651315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371299281	chr2:151651318-151651319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138771603	chr2:151651412-151651413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555018289	chr2:151651416-151651417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572067556	chr2:151651422-151651423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192298721	chr2:151651448-151651449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558070415	chr2:151651482-151651483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151226819	chr2:151651579-151651580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149238513	chr2:151651655-151651656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367634928	chr2:151651671-151651672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144459204	chr2:151651677-151651678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375124679	chr2:151651700-151651701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563822933	chr2:151651726-151651727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7607449	chr2:151651763-151651764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142019288	chr2:151651810-151651811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559366116	chr2:151651882-151651883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372459139	chr2:151651885-151651886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142840932	chr2:151651890-151651891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538116864	chr2:151652009-151652010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551690114	chr2:151652035-151652036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184369515	chr2:151652120-151652121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531155963	chr2:151652135-151652136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561507767	chr2:151652148-151652149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115793259	chr2:151652167-151652168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4449130	chr2:151652187-151652188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568253249	chr2:151652202-151652203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535244045	chr2:151652265-151652266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187255701	chr2:151652286-151652287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77493386	chr2:151652339-151652340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534580946	chr2:151652349-151652350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143851026	chr2:151652382-151652383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577975740	chr2:151652416-151652417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151650000-151659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151650000-151660200	Weak transcription	Lung	lung

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