Variant report

Variant	esv3442496
Chromosome Location	chr3:560802-563050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112982488	chr3:560818-560819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9871075	chr3:560819-560820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9856277	chr3:560824-560825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186269698	chr3:560860-560861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564284268	chr3:560865-560866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528228331	chr3:560920-560921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142198644	chr3:560961-560962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145919369	chr3:560974-560975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535726947	chr3:561012-561013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535939539	chr3:561017-561018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550186505	chr3:561037-561038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117149888	chr3:561048-561049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539160615	chr3:561059-561060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191006996	chr3:561089-561090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577370726	chr3:561101-561102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557520305	chr3:561113-561114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534952954	chr3:561130-561131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553521456	chr3:561153-561154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576184340	chr3:561213-561214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148224369	chr3:561217-561218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563688790	chr3:561240-561241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558727070	chr3:561252-561253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575669744	chr3:561269-561270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373694768	chr3:561271-561272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376398680	chr3:561281-561282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540950477	chr3:561324-561325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367977815	chr3:561326-561327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564471948	chr3:561332-561333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74808713	chr3:561336-561337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72989702	chr3:561368-561369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9860964	chr3:561404-561405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181956816	chr3:561410-561411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372567874	chr3:561450-561451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137954421	chr3:561468-561469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538998959	chr3:561469-561470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550957600	chr3:561473-561474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566485024	chr3:561494-561495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533868448	chr3:561528-561529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553318144	chr3:561566-561567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66836464	chr3:561589-561590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371210406	chr3:561618-561619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77007140	chr3:561624-561625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75175508	chr3:561641-561642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557642348	chr3:561656-561657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576007610	chr3:561657-561658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190878876	chr3:561667-561668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183133902	chr3:561672-561673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74959875	chr3:561673-561674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74346354	chr3:561674-561675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76637834	chr3:561681-561682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:560600-561200	Enhancers	Fetal Lung	lung
2	chr3:561200-562200	Weak transcription	Fetal Lung	lung
3	chr3:562600-562800	Enhancers	Fetal Lung	lung

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