Variant report

Variant	esv3359945
Chromosome Location	chr3:75185432-75193731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 398 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545582596	chr3:75185507-75185508	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs375140346	chr3:75185532-75185533	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574216563	chr3:75185543-75185544	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565083079	chr3:75185548-75185549	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532445829	chr3:75185558-75185559	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200685270	chr3:75185573-75185574	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559451729	chr3:75185591-75185592	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530448944	chr3:75185626-75185627	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6785083	chr3:75185653-75185654	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147745803	chr3:75185678-75185679	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573421454	chr3:75185699-75185700	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545507267	chr3:75185718-75185719	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529703707	chr3:75185731-75185732	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114219426	chr3:75185778-75185779	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534692096	chr3:75185782-75185783	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7431522	chr3:75185796-75185797	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7431524	chr3:75185805-75185806	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144865416	chr3:75185818-75185819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565312084	chr3:75185826-75185827	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535750133	chr3:75185828-75185829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557013201	chr3:75185852-75185853	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369197854	chr3:75185856-75185857	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575179830	chr3:75185871-75185872	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76820343	chr3:75185876-75185877	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs557512537	chr3:75185891-75185892	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576937836	chr3:75185915-75185916	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541135987	chr3:75185921-75185922	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147898601	chr3:75185922-75185923	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530005486	chr3:75185985-75185986	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372560116	chr3:75185994-75185995	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533970295	chr3:75186118-75186119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564019409	chr3:75186120-75186121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531210137	chr3:75186143-75186144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185187029	chr3:75186149-75186150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571024406	chr3:75186159-75186160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6770381	chr3:75186160-75186161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563612372	chr3:75186161-75186162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370230111	chr3:75186170-75186171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140511413	chr3:75186290-75186291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529130766	chr3:75186297-75186298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12636203	chr3:75186326-75186327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559113257	chr3:75186327-75186328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150434629	chr3:75186357-75186358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138122277	chr3:75186370-75186371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374743031	chr3:75186387-75186388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12636209	chr3:75186388-75186389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572658503	chr3:75186394-75186395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190564940	chr3:75186415-75186416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543968458	chr3:75186456-75186457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149139850	chr3:75186524-75186525	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75185400-75185800	Active TSS	A549	lung
2	chr3:75185400-75186400	Enhancers	Stomach Mucosa	stomach
3	chr3:75185800-75186000	Flanking Active TSS	A549	lung
4	chr3:75186000-75186200	Enhancers	A549	lung
5	chr3:75186400-75193200	Weak transcription	Stomach Mucosa	stomach
6	chr3:75192800-75194000	Enhancers	Fetal Intestine Large	intestine
7	chr3:75193200-75193800	Enhancers	Stomach Mucosa	stomach

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