Variant report

Variant	esv3387799
Chromosome Location	chr3:80656512-80658660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575919612	chr3:80656534-80656535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34486881	chr3:80656538-80656539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554259902	chr3:80656613-80656614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545024618	chr3:80656635-80656636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574155839	chr3:80656695-80656696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564934011	chr3:80656709-80656710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142227267	chr3:80656711-80656712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183938451	chr3:80656716-80656717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533787855	chr3:80656740-80656741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371753413	chr3:80656748-80656749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1996224	chr3:80656794-80656795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368239129	chr3:80656820-80656821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375749032	chr3:80656844-80656845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529984764	chr3:80656853-80656854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368237175	chr3:80656889-80656890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549772676	chr3:80656902-80656903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143195838	chr3:80656933-80656934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531550153	chr3:80656937-80656938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148262671	chr3:80656976-80656977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571396088	chr3:80657071-80657072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77769495	chr3:80657098-80657099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188273177	chr3:80657106-80657107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567726681	chr3:80657161-80657162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564210101	chr3:80657171-80657172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576756426	chr3:80657179-80657180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556533103	chr3:80657214-80657215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73129617	chr3:80657282-80657283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562743005	chr3:80657334-80657335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572826635	chr3:80657393-80657394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545012948	chr3:80657410-80657411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576317263	chr3:80657441-80657442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375226916	chr3:80657449-80657450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138801170	chr3:80657457-80657458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13092268	chr3:80657513-80657514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182407278	chr3:80657521-80657522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74207773	chr3:80657577-80657578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565704084	chr3:80657586-80657587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74211806	chr3:80657588-80657589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555202660	chr3:80657605-80657606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375278705	chr3:80657606-80657607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113122088	chr3:80657609-80657610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561053997	chr3:80657646-80657647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149602989	chr3:80657650-80657651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200102389	chr3:80657684-80657685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144395285	chr3:80657692-80657693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190305047	chr3:80657767-80657768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79165308	chr3:80657784-80657785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181571204	chr3:80657865-80657866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571343557	chr3:80657893-80657894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527697429	chr3:80657894-80657895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80655400-80656600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:80655600-80656600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:80655600-80656800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:80655800-80656600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:80656600-80661600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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