Variant report

Variant	esv16682
Chromosome Location	chr2:149201747-149202667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570672307	chr2:149201760-149201761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1446553	chr2:149201775-149201776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550447575	chr2:149201818-149201819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193022168	chr2:149201836-149201837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112957394	chr2:149201880-149201881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67388250	chr2:149201881-149201882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5835188	chr2:149201882-149201883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185214654	chr2:149201939-149201940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35910260	chr2:149201944-149201945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554338466	chr2:149202003-149202004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73019217	chr2:149202075-149202076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140306148	chr2:149202126-149202127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368992830	chr2:149202130-149202131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73019220	chr2:149202176-149202177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189720935	chr2:149202179-149202180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576181874	chr2:149202181-149202182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543390773	chr2:149202183-149202184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555619805	chr2:149202184-149202185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181359952	chr2:149202192-149202193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541043553	chr2:149202201-149202202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558889111	chr2:149202209-149202210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35586888	chr2:149202230-149202231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183716114	chr2:149202321-149202322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188431329	chr2:149202322-149202323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564386907	chr2:149202337-149202338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531924941	chr2:149202366-149202367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550243375	chr2:149202370-149202371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568716441	chr2:149202420-149202421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529535932	chr2:149202421-149202422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547830347	chr2:149202451-149202452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566029992	chr2:149202454-149202455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114819027	chr2:149202469-149202470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140952262	chr2:149202523-149202524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569782766	chr2:149202552-149202553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372597190	chr2:149202562-149202563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537227210	chr2:149202623-149202624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144821730	chr2:149202629-149202630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78840900	chr2:149202641-149202642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540885485	chr2:149202656-149202657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149172600-149205000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:149174200-149221400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:149174400-149221400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:149193000-149226000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:149193400-149221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:149194000-149216200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:149194800-149216200	Weak transcription	Psoas Muscle	Psoas
8	chr2:149197000-149202400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:149198600-149221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:149198600-149226000	Weak transcription	HSMM	muscle
11	chr2:149202200-149202400	Enhancers	Right Atrium	heart

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