Variant report

Variant	esv3450030
Chromosome Location	chr3:75271908-75272332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533043462	chr3:75271913-75271914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75741092	chr3:75271931-75271932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536746622	chr3:75271935-75271936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146425786	chr3:75271945-75271946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78865351	chr3:75271947-75271948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77768687	chr3:75271949-75271950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377107108	chr3:75271965-75271966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551091889	chr3:75271966-75271967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11927243	chr3:75271969-75271970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73115232	chr3:75271976-75271977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75433603	chr3:75271993-75271994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140747692	chr3:75272002-75272003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150268347	chr3:75272004-75272005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76078760	chr3:75272006-75272007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75305143	chr3:75272011-75272012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567197858	chr3:75272017-75272018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537681007	chr3:75272020-75272021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75882735	chr3:75272021-75272022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555940212	chr3:75272023-75272024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575655791	chr3:75272037-75272038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66542406	chr3:75272048-75272049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36150865	chr3:75272068-75272069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189308390	chr3:75272081-75272082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557885173	chr3:75272089-75272090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141513245	chr3:75272092-75272093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374964190	chr3:75272093-75272094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78602402	chr3:75272096-75272097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76167839	chr3:75272111-75272112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531733067	chr3:75272119-75272120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76235691	chr3:75272120-75272121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76018737	chr3:75272121-75272122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76571414	chr3:75272122-75272123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548285107	chr3:75272124-75272125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79380961	chr3:75272141-75272142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80101133	chr3:75272162-75272163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140020396	chr3:75272165-75272166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77166751	chr3:75272168-75272169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540243584	chr3:75272169-75272170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76977799	chr3:75272174-75272175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80293744	chr3:75272181-75272182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562402100	chr3:75272182-75272183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111880514	chr3:75272189-75272190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529603481	chr3:75272198-75272199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112132833	chr3:75272207-75272208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544866777	chr3:75272212-75272213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563025695	chr3:75272237-75272238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78498398	chr3:75272246-75272247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397877667	chr3:75272271-75272272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11297303	chr3:75272272-75272273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73115235	chr3:75272282-75272283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	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
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	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
Chronic lymphocytic leukemia	20421269	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75270800-75284600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:75271200-75273600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:75271200-75273800	Weak transcription	HMEC	breast

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