Variant report

Variant	esv3505886
Chromosome Location	chr2:79070346-79083471
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	chr2:79064980..79067176-chr2:79068798..79071298,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72923761	chr2:79072806-79072807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs681716	chr2:79072841-79072842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575423089	chr2:79072846-79072847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7564944	chr2:79072872-79072873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564702473	chr2:79072873-79072874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578140257	chr2:79072879-79072880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368860694	chr2:79072885-79072886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7579074	chr2:79072931-79072932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs36104945	chr2:79072944-79072945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529223627	chr2:79072961-79072962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537457891	chr2:79072972-79072973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72923763	chr2:79073011-79073012	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182278563	chr2:79073058-79073059	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531694542	chr2:79073059-79073060	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377026583	chr2:79073210-79073211	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551504246	chr2:79073213-79073214	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570614119	chr2:79073214-79073215	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539287379	chr2:79073226-79073227	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186021502	chr2:79073229-79073230	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190876542	chr2:79073242-79073243	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566671185	chr2:79073244-79073245	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376077665	chr2:79073262-79073263	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369014873	chr2:79073274-79073275	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535402683	chr2:79073351-79073352	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs116200625	chr2:79073372-79073373	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575361211	chr2:79073376-79073377	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537931012	chr2:79073395-79073396	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148187945	chr2:79073409-79073410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543437502	chr2:79073424-79073425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578107516	chr2:79073567-79073568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142710639	chr2:79073579-79073580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367594219	chr2:79073582-79073583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142236679	chr2:79082829-79082830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188227007	chr2:79082839-79082840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560671223	chr2:79082854-79082855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192970770	chr2:79082951-79082952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542423520	chr2:79083040-79083041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550353484	chr2:79083058-79083059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185194394	chr2:79083084-79083085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532832882	chr2:79083121-79083122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146403658	chr2:79083181-79083182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112227210	chr2:79083208-79083209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557400977	chr2:79083277-79083278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566058903	chr2:79083282-79083283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535042067	chr2:79083286-79083287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1521965	chr2:79083305-79083306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568547754	chr2:79083422-79083423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139484826	chr2:79083426-79083427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556318991	chr2:79083452-79083453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576195934	chr2:79083458-79083459	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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79072800-79073000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr2:79072800-79073600	Enhancers	HUVEC	blood vessel
3	chr2:79073000-79073400	Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:79082800-79083800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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