Variant report

Variant	esv3488025
Chromosome Location	chr9:12554728-12560106
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	chr9:12554435..12555308-chr9:12639713..12640600,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146375365	chr9:12555408-12555409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574984711	chr9:12555429-12555430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187784226	chr9:12555435-12555436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148161174	chr9:12555456-12555457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142020308	chr9:12555510-12555511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547221832	chr9:12555562-12555563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536766002	chr9:12555573-12555574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189868850	chr9:12555590-12555591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371379710	chr9:12555592-12555593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539257128	chr9:12555618-12555619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182130834	chr9:12555629-12555630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187238303	chr9:12555633-12555634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199774570	chr9:12555637-12555638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34515958	chr9:12555638-12555639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536637862	chr9:12555647-12555648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534216008	chr9:12555691-12555692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555628359	chr9:12555754-12555755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111940357	chr9:12555832-12555833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191696083	chr9:12555853-12555854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534150005	chr9:12555857-12555858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148508523	chr9:12555867-12555868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150606375	chr9:12555949-12555950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577378032	chr9:12555954-12555955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376980137	chr9:12555999-12556000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546442007	chr9:12556016-12556017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185297906	chr9:12556027-12556028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188612833	chr9:12556061-12556062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576562673	chr9:12556082-12556083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193145660	chr9:12556117-12556118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562401591	chr9:12556118-12556119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368536816	chr9:12556140-12556141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527289178	chr9:12556194-12556195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139697403	chr9:12556199-12556200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75253467	chr9:12556241-12556242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149785748	chr9:12556244-12556245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372630817	chr9:12556290-12556291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185698183	chr9:12556291-12556292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373210453	chr9:12556302-12556303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376611591	chr9:12556327-12556328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200344035	chr9:12556336-12556337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190222099	chr9:12556377-12556378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180893889	chr9:12556406-12556407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147482226	chr9:12556411-12556412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140022589	chr9:12556412-12556413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554182792	chr9:12556474-12556475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183522163	chr9:12556479-12556480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369087963	chr9:12556507-12556508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539972929	chr9:12556516-12556517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145219211	chr9:12556559-12556560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576607067	chr9:12556566-12556567	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12555400-12556200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12555400-12556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:12559600-12560000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:12560000-12560400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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