Variant report

Variant	nsv963959
Chromosome Location	chr2:77889494-77901733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:77893819-77894063	HepG2	liver:	n/a	chr2:77893930-77893941
2	CEBPB	chr2:77893764-77894088	HepG2	liver:	n/a	chr2:77893930-77893941
3	CEBPB	chr2:77893984-77894002	A549	lung:	n/a	n/a
4	CTCF	chr2:77894725-77894782	GM10266	blood:	n/a	n/a
5	EP300	chr2:77893717-77894171	HepG2	liver:	n/a	n/a
6	EP300	chr2:77893873-77893901	HepG2	liver:	n/a	n/a
7	EP300	chr2:77893798-77894107	HepG2	liver:	n/a	n/a
8	FOSL2	chr2:77893830-77894142	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:77893691-77894101	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:77893629-77894136	HepG2	liver:	n/a	n/a
11	FOXA1	chr2:77893740-77894142	HepG2	liver:	n/a	n/a
12	FOXA2	chr2:77893722-77894056	HepG2	liver:	n/a	n/a
13	MYBL2	chr2:77893672-77894149	HepG2	liver:	n/a	n/a
14	NR3C1	chr2:77890898-77891070	A549	lung:	n/a	n/a
15	POLR2A	chr2:77896417-77896425	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:77895586-77895634	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:77898778-77898888	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:77897513-77897694	GM12878	blood:	n/a	n/a
19	REST	chr2:77891018-77891062	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-5	chr2:77900177-77900918	XLOC_001541
2	lnc-REG3G-5	chr2:77899341-77899395	XLOC_001541

Variant related genes	Relation type
ENSG00000230968	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561419046	chr2:77892012-77892013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573319333	chr2:77892020-77892021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535938513	chr2:77892021-77892022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181337346	chr2:77892022-77892023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148355464	chr2:77892079-77892080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186863616	chr2:77892103-77892104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576144601	chr2:77892132-77892133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545231895	chr2:77892137-77892138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565177171	chr2:77892142-77892143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144752434	chr2:77892153-77892154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371222743	chr2:77892173-77892174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561236476	chr2:77892195-77892196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530132455	chr2:77892199-77892200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528874614	chr2:77892200-77892201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116547684	chr2:77892220-77892221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563845014	chr2:77892229-77892230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532593391	chr2:77892238-77892239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148539364	chr2:77892248-77892249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537176113	chr2:77892266-77892267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534953381	chr2:77892416-77892417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533125319	chr2:77892458-77892459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557031823	chr2:77892461-77892462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191712543	chr2:77892499-77892500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555980006	chr2:77892550-77892551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111497952	chr2:77892559-77892560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187917542	chr2:77892575-77892576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538221662	chr2:77892579-77892580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551646303	chr2:77892586-77892587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538360147	chr2:77892602-77892603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4513323	chr2:77892612-77892613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189701990	chr2:77892625-77892626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541307913	chr2:77892640-77892641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537220281	chr2:77892672-77892673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75786480	chr2:77892698-77892699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182055756	chr2:77892711-77892712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186691090	chr2:77892720-77892721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539627140	chr2:77892764-77892765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114393993	chr2:77892768-77892769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142851916	chr2:77892776-77892777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549513030	chr2:77892787-77892788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192854631	chr2:77892824-77892825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528688860	chr2:77892825-77892826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548457937	chr2:77892838-77892839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184883259	chr2:77892874-77892875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188594631	chr2:77892875-77892876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549705496	chr2:77892917-77892918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150616868	chr2:77892923-77892924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538707310	chr2:77892934-77892935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552843795	chr2:77892952-77892953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558712104	chr2:77892956-77892957	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77892000-77893800	Enhancers	Fetal Lung	lung
2	chr2:77892200-77894200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:77892800-77894000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:77893200-77894200	Enhancers	HepG2	liver
5	chr2:77893600-77894200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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