Variant report

Variant	esv3338148
Chromosome Location	chr2:149197782-149202880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554547454	chr2:149197892-149197893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571071880	chr2:149197946-149197947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184265197	chr2:149198022-149198023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535584324	chr2:149198024-149198025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574926212	chr2:149198059-149198060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113952704	chr2:149198064-149198065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536220355	chr2:149198090-149198091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554236760	chr2:149198101-149198102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145944469	chr2:149198128-149198129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58489982	chr2:149198148-149198149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397957726	chr2:149198155-149198156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536669510	chr2:149198179-149198180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554929301	chr2:149198193-149198194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146813364	chr2:149198226-149198227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1524370	chr2:149198275-149198276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572066527	chr2:149198299-149198300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559991477	chr2:149198315-149198316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112684056	chr2:149198322-149198323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139830521	chr2:149198357-149198358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545754788	chr2:149198382-149198383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563957874	chr2:149198422-149198423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76108493	chr2:149198487-149198488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369391678	chr2:149198578-149198579	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs115198128	chr2:149198582-149198583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561091958	chr2:149198605-149198606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540833927	chr2:149198621-149198622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565007026	chr2:149198631-149198632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59261157	chr2:149198633-149198634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201043390	chr2:149198674-149198675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189076917	chr2:149198682-149198683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60061051	chr2:149198702-149198703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538439159	chr2:149198721-149198722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550487487	chr2:149198732-149198733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568831484	chr2:149198733-149198734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536118880	chr2:149198737-149198738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554556538	chr2:149198780-149198781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112832727	chr2:149198802-149198803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34415030	chr2:149198819-149198820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34937608	chr2:149198831-149198832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs578233783	chr2:149198867-149198868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541827285	chr2:149198868-149198869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563399333	chr2:149198877-149198878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35431687	chr2:149198881-149198882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563845371	chr2:149198898-149198899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552102225	chr2:149198907-149198908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575910292	chr2:149198920-149198921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373322458	chr2:149198930-149198931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201679905	chr2:149199002-149199003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561340653	chr2:149199010-149199011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528475516	chr2:149199037-149199038	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:18 , 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	chr2:149179400-149198800	Weak transcription	Fetal Stomach	stomach
5	chr2:149193000-149226000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:149193400-149221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:149193600-149201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:149194000-149216200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:149194800-149200200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:149194800-149216200	Weak transcription	Psoas Muscle	Psoas
11	chr2:149195000-149198400	Weak transcription	HSMM	muscle
12	chr2:149197000-149202400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:149198000-149198400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:149198400-149198600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:149198400-149198600	ZNF genes & repeats	HSMM	muscle
16	chr2:149198600-149221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:149198600-149226000	Weak transcription	HSMM	muscle
18	chr2:149202200-149202400	Enhancers	Right Atrium	heart

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