Variant report

Variant	esv3333916
Chromosome Location	chr1:216466329-216469927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533045496	chr1:216466602-216466603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371003244	chr1:216466610-216466611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140603813	chr1:216466645-216466646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563501070	chr1:216466658-216466659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs773129	chr1:216466668-216466669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549238351	chr1:216466696-216466697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150471485	chr1:216466710-216466711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528816903	chr1:216466718-216466719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188324596	chr1:216466755-216466756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551741927	chr1:216466778-216466779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573843693	chr1:216466832-216466833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10864237	chr1:216466861-216466862	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115066854	chr1:216466887-216466888	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs138279420	chr1:216466919-216466920	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149183794	chr1:216466975-216466976	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371824574	chr1:216467009-216467010	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374040325	chr1:216467059-216467060	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535625776	chr1:216467064-216467065	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35735293	chr1:216467069-216467070	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181774096	chr1:216467083-216467084	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs79130551	chr1:216467097-216467098	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572297851	chr1:216467161-216467162	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146718238	chr1:216467172-216467173	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557690946	chr1:216467220-216467221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561226125	chr1:216467243-216467244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543080839	chr1:216467289-216467290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34289439	chr1:216467312-216467313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563065410	chr1:216467360-216467361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528982172	chr1:216467370-216467371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542796878	chr1:216467448-216467449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544541774	chr1:216467456-216467457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200806888	chr1:216467493-216467494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114017448	chr1:216467522-216467523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528777256	chr1:216467596-216467597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17650989	chr1:216467627-216467628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185780655	chr1:216467661-216467662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530942028	chr1:216467672-216467673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189858241	chr1:216467699-216467700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531487321	chr1:216467702-216467703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527342854	chr1:216467710-216467711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568352068	chr1:216467737-216467738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547457867	chr1:216467763-216467764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567148555	chr1:216467790-216467791	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216466600-216466800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:216466800-216467000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:216466800-216467800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:216466800-216467800	Enhancers	Hela-S3	cervix
5	chr1:216467000-216467200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:216467200-216467800	Enhancers	Pancreatic Islets	Pancreatic Islet

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