Variant report

Variant	esv3401037
Chromosome Location	chr2:126509082-126510868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528915355	chr2:126509221-126509222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180686487	chr2:126509224-126509225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564433114	chr2:126509228-126509229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533511697	chr2:126509260-126509261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137920233	chr2:126509261-126509262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563372790	chr2:126509280-126509281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529236140	chr2:126509301-126509302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34027832	chr2:126509312-126509313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568296668	chr2:126509319-126509320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4341940	chr2:126509333-126509334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373643903	chr2:126509356-126509357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527841907	chr2:126509379-126509380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140917766	chr2:126509384-126509385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34324385	chr2:126509446-126509447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185788164	chr2:126509455-126509456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539568002	chr2:126509478-126509479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553244914	chr2:126509483-126509484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549885985	chr2:126509491-126509492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115851957	chr2:126509497-126509498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535415396	chr2:126509501-126509502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375002377	chr2:126509561-126509562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143740401	chr2:126509572-126509573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372148385	chr2:126509593-126509594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534997224	chr2:126509624-126509625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191044565	chr2:126509636-126509637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578096058	chr2:126509649-126509650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550350785	chr2:126509655-126509656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79863923	chr2:126509657-126509658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570780624	chr2:126509666-126509667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542569743	chr2:126509673-126509674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539720280	chr2:126509686-126509687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559476271	chr2:126509703-126509704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370329925	chr2:126509720-126509721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556470876	chr2:126509734-126509735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569703396	chr2:126509769-126509770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535527263	chr2:126509777-126509778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13009287	chr2:126509818-126509819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111454413	chr2:126509887-126509888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113130661	chr2:126509893-126509894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549925010	chr2:126509942-126509943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374572908	chr2:126509953-126509954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535452474	chr2:126509979-126509980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183812010	chr2:126510121-126510122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565540306	chr2:126510130-126510131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535358863	chr2:126510156-126510157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558154805	chr2:126510191-126510192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577833982	chr2:126510253-126510254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13422143	chr2:126510297-126510298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28642264	chr2:126510429-126510430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113832839	chr2:126510454-126510455	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126504600-126512800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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