Variant report

Variant	esv3431951
Chromosome Location	chr2:152451024-152461648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568850372	chr2:152451060-152451061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201792803	chr2:152451261-152451262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374776000	chr2:152451263-152451264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554096247	chr2:152451316-152451317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201008053	chr2:152451345-152451346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533617088	chr2:152451361-152451362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146153331	chr2:152451548-152451549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577351442	chr2:152451922-152451923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559070193	chr2:152451935-152451936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372651319	chr2:152451936-152451937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546460398	chr2:152451991-152451992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547326621	chr2:152452281-152452282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140039820	chr2:152452458-152452459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149849735	chr2:152453608-152453609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62174701	chr2:152454945-152454946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77474850	chr2:152454949-152454950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62174702	chr2:152454959-152454960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145833677	chr2:152455059-152455060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28705680	chr2:152456532-152456533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148976103	chr2:152456696-152456697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200125713	chr2:152457116-152457117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201225445	chr2:152457118-152457119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563172875	chr2:152457473-152457474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369147939	chr2:152457568-152457569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201847731	chr2:152457625-152457626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372778072	chr2:152457855-152457856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542552121	chr2:152457859-152457860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562029680	chr2:152457884-152457885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527708642	chr2:152457921-152457922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183671974	chr2:152457925-152457926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145154453	chr2:152457974-152457975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564636113	chr2:152457982-152457983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371168880	chr2:152458005-152458006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373141570	chr2:152458086-152458087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377428242	chr2:152458103-152458104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371301797	chr2:152458158-152458159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374735542	chr2:152458239-152458240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112260335	chr2:152459090-152459091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201046240	chr2:152460045-152460046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147579763	chr2:152460241-152460242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202017360	chr2:152460265-152460266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199886070	chr2:152460269-152460270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568714726	chr2:152460299-152460300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537706011	chr2:152460330-152460331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548093589	chr2:152460339-152460340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62174703	chr2:152460635-152460636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567934849	chr2:152460791-152460792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62174704	chr2:152460795-152460796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533819821	chr2:152460969-152460970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112409014	chr2:152461066-152461067	Weak transcription 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:7 , 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	chr2:152448800-152460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:152448800-152466000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:152448800-152466200	Weak transcription	HSMMtube	muscle
6	chr2:152460200-152463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas

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