Variant report

Variant	esv3340136
Chromosome Location	chr3:75306862-75311460
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	chr3:75299981..75301854-chr3:75306203..75307918,2	MCF-7	breast:
2	chr3:75308414..75309217-chr3:75343438..75343942,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546320511	chr3:75306873-75306874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181789058	chr3:75306945-75306946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528499911	chr3:75306946-75306947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546975118	chr3:75306966-75306967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185143622	chr3:75306980-75306981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568786829	chr3:75306984-75306985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201157043	chr3:75307127-75307128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557479263	chr3:75307250-75307251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529563688	chr3:75307262-75307263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564663495	chr3:75307274-75307275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113577999	chr3:75307348-75307349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7428379	chr3:75307357-75307358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs189853031	chr3:75307378-75307379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557433242	chr3:75307396-75307397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71319883	chr3:75307400-75307401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566189959	chr3:75307407-75307408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533556022	chr3:75307420-75307421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554911401	chr3:75307431-75307432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369215893	chr3:75307461-75307462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573533472	chr3:75307481-75307482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570556218	chr3:75307498-75307499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147288074	chr3:75307499-75307500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529469798	chr3:75307510-75307511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544527663	chr3:75307523-75307524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549502690	chr3:75307531-75307532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142328081	chr3:75307535-75307536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs63094861	chr3:75307574-75307575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398082204	chr3:75307581-75307582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577818175	chr3:75307585-75307586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544832669	chr3:75307633-75307634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564584321	chr3:75307656-75307657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142452490	chr3:75307674-75307675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558108754	chr3:75307732-75307733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571521838	chr3:75307746-75307747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146888726	chr3:75307754-75307755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562095229	chr3:75307762-75307763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9872087	chr3:75307786-75307787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551302810	chr3:75307796-75307797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180765249	chr3:75307810-75307811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368333230	chr3:75307854-75307855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376127570	chr3:75307869-75307870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533578634	chr3:75307873-75307874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140729318	chr3:75307903-75307904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566251267	chr3:75307945-75307946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371140769	chr3:75307948-75307949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533668885	chr3:75307950-75307951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186528233	chr3:75308025-75308026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567296657	chr3:75308073-75308074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115480433	chr3:75308119-75308120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573456938	chr3:75308120-75308121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75304600-75309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:75308400-75308600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:75308800-75309400	Enhancers	Fetal Brain Male	brain
4	chr3:75308800-75309600	Enhancers	HepG2	liver
5	chr3:75308800-75309800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:75309000-75309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:75309000-75309400	Active TSS	Gastric	stomach
8	chr3:75309200-75309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:75309200-75309400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
10	chr3:75309800-75310400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:75311200-75311800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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