Variant report

Variant	esv1820370
Chromosome Location	chr2:76770013-76775393
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	chr2:76763397..76766096-chr2:76770363..76772214,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13396384	chr2:76771027-76771028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577162602	chr2:76771091-76771092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189729563	chr2:76771210-76771211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566165984	chr2:76771219-76771220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573711271	chr2:76771265-76771266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544238693	chr2:76771313-76771314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562437284	chr2:76771364-76771365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546316732	chr2:76771505-76771506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532887951	chr2:76771551-76771552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1997454	chr2:76771556-76771557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564567094	chr2:76771569-76771570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528684963	chr2:76771578-76771579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370928989	chr2:76771614-76771615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546920989	chr2:76771660-76771661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568399467	chr2:76771662-76771663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535715720	chr2:76771667-76771668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540056505	chr2:76771711-76771712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71420923	chr2:76771720-76771721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1997455	chr2:76771745-76771746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559757179	chr2:76771764-76771765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539588649	chr2:76771779-76771780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72810858	chr2:76771932-76771933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530214799	chr2:76771955-76771956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113449573	chr2:76771957-76771958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572981699	chr2:76771964-76771965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1316925	chr2:76771987-76771988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555563483	chr2:76771993-76771994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574004106	chr2:76772019-76772020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529417779	chr2:76772051-76772052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369924697	chr2:76772060-76772061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557683589	chr2:76772106-76772107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149936719	chr2:76772109-76772110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562355049	chr2:76772154-76772155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144981998	chr2:76772169-76772170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577559619	chr2:76772204-76772205	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542370918	chr2:76772308-76772309	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560174013	chr2:76772344-76772345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs367999655	chr2:76772399-76772400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs4853258	chr2:76772448-76772449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs542166657	chr2:76772532-76772533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182243269	chr2:76772540-76772541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141656295	chr2:76772574-76772575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147050438	chr2:76772621-76772622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57098716	chr2:76772643-76772644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185482684	chr2:76772747-76772748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539830360	chr2:76772752-76772753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569201428	chr2:76772758-76772759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190243299	chr2:76772766-76772767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551617359	chr2:76772784-76772785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375610884	chr2:76772800-76772801	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76771000-76772800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:76771200-76772200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:76771800-76772800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:76771800-76773000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:76771800-76773000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:76772000-76772400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:76772200-76772400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:76772400-76773000	Enhancers	HUES48 Cell Line	embryonic stem cell

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