Variant report

Variant	esv3482979
Chromosome Location	chr9:13065667-13069857
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	chr9:13058767..13060767-chr9:13068798..13070825,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12555271	chr9:13069407-13069408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542532973	chr9:13069411-13069412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139039931	chr9:13069416-13069417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528304043	chr9:13069423-13069424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141918491	chr9:13069449-13069450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570968956	chr9:13069455-13069456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192883080	chr9:13069533-13069534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550105491	chr9:13069561-13069562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552266452	chr9:13069625-13069626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570080019	chr9:13069636-13069637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184840792	chr9:13069644-13069645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539048687	chr9:13069679-13069680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147803396	chr9:13069680-13069681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556132862	chr9:13069685-13069686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73647482	chr9:13069750-13069751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146303718	chr9:13069751-13069752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188044765	chr9:13069772-13069773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73647483	chr9:13069795-13069796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73647484	chr9:13069805-13069806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568811452	chr9:13069818-13069819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556509518	chr9:13069823-13069824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139292825	chr9:13069849-13069850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536154024	chr9:13069850-13069851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73647485	chr9:13069853-13069854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
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
Breast cancer	21611746	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13069400-13070000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:13069400-13070000	Enhancers	NHEK	skin
3	chr9:13069600-13070600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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