Variant report

Variant	esv2422119
Chromosome Location	chr2:67760072-67765892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142199609	chr2:67761240-67761241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539763141	chr2:67761279-67761280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556531094	chr2:67761297-67761298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567743383	chr2:67761319-67761320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11679857	chr2:67761357-67761358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181980252	chr2:67761359-67761360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550225202	chr2:67761385-67761386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541471281	chr2:67761433-67761434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146370492	chr2:67761438-67761439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570232854	chr2:67761463-67761464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533337564	chr2:67761468-67761469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139659067	chr2:67761471-67761472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150017994	chr2:67761479-67761480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531576493	chr2:67761515-67761516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369788897	chr2:67761517-67761518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376895625	chr2:67763811-67763812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548110048	chr2:67763840-67763841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11689141	chr2:67763895-67763896	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550834360	chr2:67763908-67763909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112282837	chr2:67763912-67763913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs567744057	chr2:67763925-67763926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552933016	chr2:67763931-67763932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185425638	chr2:67763939-67763940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11683245	chr2:67763946-67763947	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2969305	chr2:67763972-67763973	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577772632	chr2:67763981-67763982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543595895	chr2:67764007-67764008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556827032	chr2:67764049-67764050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554845274	chr2:67764056-67764057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62155320	chr2:67764066-67764067	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559409483	chr2:67764072-67764073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189194873	chr2:67764080-67764081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146388810	chr2:67764087-67764088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545721953	chr2:67764089-67764090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565561291	chr2:67764098-67764099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74571147	chr2:67764128-67764129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191343488	chr2:67764150-67764151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532388452	chr2:67764216-67764217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576844660	chr2:67764264-67764265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34421905	chr2:67764287-67764288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546660151	chr2:67764298-67764299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60984719	chr2:67764307-67764308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183968560	chr2:67764315-67764316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112165526	chr2:67764338-67764339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58272443	chr2:67764341-67764342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188651012	chr2:67764375-67764376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6756660	chr2:67764391-67764392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536879336	chr2:67764392-67764393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112890624	chr2:67764400-67764401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2541024	chr2:67764418-67764419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67761200-67761600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:67763800-67764200	ZNF genes & repeats	Pancreas	Pancrea
3	chr2:67764200-67767800	Weak transcription	Pancreas	Pancrea

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