Variant report

Variant	esv2754712
Chromosome Location	chr3:75996796-76003036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:26199924..26201625-chr3:75995563..75997738,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577063621	chr3:75998446-75998447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs540697649	chr3:75998472-75998473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552916278	chr3:75998476-75998477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs75453038	chr3:75998491-75998492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76631787	chr3:75998506-75998507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs78714548	chr3:75998514-75998515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574602112	chr3:75998526-75998527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75158105	chr3:75998536-75998537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75910026	chr3:75998548-75998549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541919568	chr3:75998549-75998550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78388116	chr3:75998608-75998609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs199995094	chr3:75998609-75998610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs80320568	chr3:75998617-75998618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78478350	chr3:75998623-75998624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561469527	chr3:75998640-75998641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531900450	chr3:75998645-75998646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76236008	chr3:75998654-75998655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs72888479	chr3:75998657-75998658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543989946	chr3:75998689-75998690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565488966	chr3:75998693-75998694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76234498	chr3:75998697-75998698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76111131	chr3:75998700-75998701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111800959	chr3:75998704-75998705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144855634	chr3:75998705-75998706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs3036028	chr3:75998706-75998707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs115438615	chr3:75998719-75998720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs184593580	chr3:75998802-75998803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3860548	chr3:75998867-75998868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2013750	chr3:75998899-75998900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373634706	chr3:75998922-75998923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376589686	chr3:75998926-75998927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370693786	chr3:75998928-75998929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372771642	chr3:75998929-75998930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397808744	chr3:75998930-75998931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377434011	chr3:75998931-75998932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72630354	chr3:75998932-75998933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565707073	chr3:75998966-75998967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2013755	chr3:75998980-75998981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531507200	chr3:75998986-75998987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530135229	chr3:75999006-75999007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187420191	chr3:75999007-75999008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548507238	chr3:75999027-75999028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115764334	chr3:75999041-75999042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2875340	chr3:75999047-75999048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375023262	chr3:75999053-75999054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2013761	chr3:75999059-75999060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536891469	chr3:75999075-75999076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558694332	chr3:75999101-75999102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570688639	chr3:75999147-75999148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113630271	chr3:75999164-75999165	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22102821	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	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75998400-75998800	ZNF genes & repeats	Fetal Brain Male	brain
2	chr3:75998800-75999000	Weak transcription	Fetal Brain Male	brain
3	chr3:75999000-75999200	Enhancers	Fetal Brain Male	brain
4	chr3:75999400-76004200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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