Variant report

Variant	esv3428581
Chromosome Location	chr2:51534048-51536046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115237662	chr2:51534246-51534247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371973220	chr2:51534248-51534249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375303624	chr2:51534254-51534255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12233091	chr2:51534306-51534307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs13402444	chr2:51534381-51534382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535562812	chr2:51534383-51534384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62142879	chr2:51534577-51534578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62142880	chr2:51534593-51534594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147115132	chr2:51534803-51534804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557878538	chr2:51534817-51534818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62142883	chr2:51534836-51534837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528787673	chr2:51534843-51534844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547051103	chr2:51534869-51534870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6729654	chr2:51534914-51534915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529259325	chr2:51534983-51534984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550811870	chr2:51534993-51534994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59452147	chr2:51535025-51535026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72832170	chr2:51535037-51535038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369818130	chr2:51535048-51535049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369434368	chr2:51535096-51535097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188794748	chr2:51535101-51535102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6761590	chr2:51535148-51535149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533817356	chr2:51535157-51535158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555367023	chr2:51535210-51535211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74331856	chr2:51535275-51535276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373085825	chr2:51535279-51535280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181947597	chr2:51535299-51535300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555990399	chr2:51535313-51535314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577379765	chr2:51535317-51535318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138516188	chr2:51535318-51535319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546460539	chr2:51535334-51535335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564656294	chr2:51535336-51535337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148828456	chr2:51535337-51535338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538949649	chr2:51535350-51535351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558850462	chr2:51535389-51535390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116803371	chr2:51535414-51535415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562371029	chr2:51535429-51535430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369073609	chr2:51535468-51535469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13392665	chr2:51535469-51535470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559989833	chr2:51535471-51535472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113820176	chr2:51535504-51535505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562887304	chr2:51535513-51535514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141701986	chr2:51535531-51535532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573650108	chr2:51535582-51535583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551193279	chr2:51535601-51535602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566306859	chr2:51535613-51535614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533707727	chr2:51535650-51535651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549019118	chr2:51535652-51535653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529179517	chr2:51535701-51535702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555087098	chr2:51535720-51535721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51534200-51534600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:51534200-51534600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:51534800-51537000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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