Variant report

Variant	esv2425313
Chromosome Location	chr2:72826143-72827718
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	chr2:72827697..72829477-chr2:72834836..72837419,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35006372	chr2:72826237-72826238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146665500	chr2:72826284-72826285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373020593	chr2:72826300-72826301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4852880	chr2:72826310-72826311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs376287809	chr2:72826331-72826332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370361080	chr2:72826337-72826338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557901871	chr2:72826356-72826357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573448316	chr2:72826505-72826506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186077910	chr2:72826548-72826549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562329292	chr2:72826661-72826662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1596930	chr2:72826665-72826666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556718552	chr2:72826728-72826729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139232599	chr2:72826740-72826741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548385748	chr2:72826786-72826787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576418805	chr2:72826790-72826791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371111716	chr2:72826816-72826817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10182290	chr2:72826821-72826822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551432176	chr2:72826860-72826861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566626232	chr2:72826863-72826864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528227551	chr2:72826889-72826890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144035538	chr2:72826951-72826952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568211336	chr2:72826952-72826953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370073270	chr2:72826972-72826973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147432110	chr2:72827019-72827020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192189140	chr2:72827028-72827029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557006995	chr2:72827035-72827036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568799685	chr2:72827053-72827054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1596931	chr2:72827112-72827113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146444427	chr2:72827129-72827130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572984285	chr2:72827184-72827185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540369867	chr2:72827185-72827186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183552384	chr2:72827291-72827292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71391710	chr2:72827295-72827296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574183344	chr2:72827317-72827318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113556606	chr2:72827322-72827323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544876524	chr2:72827335-72827336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112719212	chr2:72827336-72827337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187483753	chr2:72827352-72827353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565237671	chr2:72827372-72827373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533308763	chr2:72827450-72827451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571949928	chr2:72827462-72827463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545008736	chr2:72827471-72827472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569490901	chr2:72827514-72827515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140840308	chr2:72827515-72827516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547186844	chr2:72827571-72827572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70963132	chr2:72827591-72827592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57908608	chr2:72827592-72827593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199850808	chr2:72827609-72827610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527774849	chr2:72827637-72827638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113860681	chr2:72827661-72827662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72809200-72833800	Weak transcription	Left Ventricle	heart

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