Variant report

Variant	esv3459601
Chromosome Location	chr2:67758894-67766393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67753670..67756396-chr2:67758038..67759731,2	K562	blood:

Extended variants
information (count: 160 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73936522	chr2:67758905-67758906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2541022	chr2:67758906-67758907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532455599	chr2:67758907-67758908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552218979	chr2:67758932-67758933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568935204	chr2:67758964-67758965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538196201	chr2:67758978-67758979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143787016	chr2:67759000-67759001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567544638	chr2:67759053-67759054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536083872	chr2:67759054-67759055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553114764	chr2:67759058-67759059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573037391	chr2:67759069-67759070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146834665	chr2:67759074-67759075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558638419	chr2:67759078-67759079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575321399	chr2:67759092-67759093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139623223	chr2:67759133-67759134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142855723	chr2:67759134-67759135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375926201	chr2:67759186-67759187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191987471	chr2:67759211-67759212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375116731	chr2:67759216-67759217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561472721	chr2:67759219-67759220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17633966	chr2:67759234-67759235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565852691	chr2:67759243-67759244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151040114	chr2:67759299-67759300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560330280	chr2:67759322-67759323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368996266	chr2:67759325-67759326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189015491	chr2:67759411-67759412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552259553	chr2:67759455-67759456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562605107	chr2:67759460-67759461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193018786	chr2:67759462-67759463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538617848	chr2:67759481-67759482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185694161	chr2:67759548-67759549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536560949	chr2:67759561-67759562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7605921	chr2:67759585-67759586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142199609	chr2:67761240-67761241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539763141	chr2:67761279-67761280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556531094	chr2:67761297-67761298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567743383	chr2:67761319-67761320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11679857	chr2:67761357-67761358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181980252	chr2:67761359-67761360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550225202	chr2:67761385-67761386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541471281	chr2:67761433-67761434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146370492	chr2:67761438-67761439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570232854	chr2:67761463-67761464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533337564	chr2:67761468-67761469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139659067	chr2:67761471-67761472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150017994	chr2:67761479-67761480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531576493	chr2:67761515-67761516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369788897	chr2:67761517-67761518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376895625	chr2:67763811-67763812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548110048	chr2:67763840-67763841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67757600-67759200	Weak transcription	Fetal Lung	lung
2	chr2:67759000-67759600	Enhancers	Fetal Stomach	stomach
3	chr2:67759400-67759600	Enhancers	Fetal Lung	lung
4	chr2:67761200-67761600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67763800-67764200	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:67764200-67767800	Weak transcription	Pancreas	Pancrea

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