Variant report

Variant	esv1812593
Chromosome Location	chr3:80062959-80087047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:80068193..80070533-chr3:80076730..80078457,2	MCF-7	breast:
2	chr3:80051060..80053674-chr3:80068209..80070494,2	MCF-7	breast:
3	chr3:80068193..80070533-chr3:80076730..80078457,2	MCF-7	breast:
4	chr3:80065925..80067779-chr3:80730870..80732420,2	MCF-7	breast:

Extended variants
information (count: 289 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77175908	chr3:80062999-80063000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571678780	chr3:80063059-80063060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73850496	chr3:80063137-80063138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192100337	chr3:80063227-80063228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7653131	chr3:80063266-80063267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535368300	chr3:80063311-80063312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536777160	chr3:80063327-80063328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74931214	chr3:80063404-80063405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569125755	chr3:80063421-80063422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7653326	chr3:80063467-80063468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113421763	chr3:80063535-80063536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184238298	chr3:80063610-80063611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375984684	chr3:80063616-80063617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76808711	chr3:80063943-80063944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534738446	chr3:80063983-80063984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189465376	chr3:80064050-80064051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180920924	chr3:80064087-80064088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573631821	chr3:80064097-80064098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540127428	chr3:80064105-80064106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201311252	chr3:80064106-80064107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140332037	chr3:80064124-80064125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145496450	chr3:80064159-80064160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369572967	chr3:80064177-80064178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146515415	chr3:80064182-80064183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200773582	chr3:80064205-80064206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376146325	chr3:80064208-80064209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369303932	chr3:80064211-80064212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372696065	chr3:80064216-80064217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73850497	chr3:80064265-80064266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558585406	chr3:80064267-80064268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547442511	chr3:80064302-80064303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185801148	chr3:80064306-80064307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530078983	chr3:80064328-80064329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376204486	chr3:80064331-80064332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370242765	chr3:80064334-80064335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370370215	chr3:80064340-80064341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374686957	chr3:80064341-80064342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550148049	chr3:80064384-80064385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377472972	chr3:80064469-80064470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189429628	chr3:80064477-80064478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181959955	chr3:80064542-80064543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79803372	chr3:80064596-80064597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186186349	chr3:80064682-80064683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577020514	chr3:80064693-80064694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190551044	chr3:80064704-80064705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35095190	chr3:80064708-80064709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562326557	chr3:80064709-80064710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200811564	chr3:80064711-80064712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13062699	chr3:80064712-80064713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369375871	chr3:80064713-80064714	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80055200-80066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:80066400-80066800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:80066400-80068600	Enhancers	HUVEC	blood vessel
4	chr3:80066600-80066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:80072000-80073000	Enhancers	Fetal Heart	heart
6	chr3:80085000-80085600	Enhancers	Fetal Lung	lung
7	chr3:80085600-80086200	Weak transcription	Fetal Lung	lung

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