Variant report

Variant	nsv969750
Chromosome Location	chr9:13374271-13378180
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	chr9:13370327..13372389-chr9:13372731..13374721,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532762042	chr9:13375861-13375862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552758125	chr9:13375903-13375904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568983558	chr9:13375945-13375946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532244585	chr9:13375956-13375957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187642892	chr9:13375974-13375975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548255888	chr9:13376032-13376033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568028152	chr9:13376085-13376086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533878925	chr9:13376104-13376105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73410156	chr9:13376159-13376160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370502135	chr9:13376190-13376191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539255345	chr9:13376244-13376245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549042933	chr9:13376277-13376278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575378363	chr9:13376301-13376302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550423391	chr9:13376304-13376305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544276621	chr9:13376317-13376318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141980001	chr9:13376324-13376325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373708526	chr9:13376338-13376339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150097585	chr9:13376360-13376361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73410157	chr9:13376374-13376375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138445946	chr9:13376464-13376465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577426163	chr9:13376523-13376524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189828917	chr9:13376558-13376559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540332703	chr9:13376587-13376588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149284419	chr9:13376607-13376608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73410158	chr9:13376628-13376629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144315080	chr9:13376652-13376653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566929187	chr9:13376673-13376674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561596165	chr9:13376694-13376695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527306867	chr9:13376710-13376711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547035056	chr9:13376728-13376729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181605065	chr9:13376793-13376794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530780773	chr9:13376802-13376803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373115968	chr9:13376807-13376808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148353452	chr9:13376830-13376831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185590567	chr9:13376907-13376908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549591582	chr9:13376939-13376940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73410159	chr9:13376941-13376942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142212839	chr9:13376943-13376944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555066593	chr9:13376960-13376961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146400184	chr9:13377001-13377002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190311368	chr9:13377002-13377003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553871304	chr9:13377022-13377023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577660170	chr9:13377031-13377032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559094512	chr9:13377041-13377042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370164323	chr9:13377042-13377043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566477547	chr9:13377044-13377045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563111219	chr9:13377045-13377046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182803815	chr9:13377063-13377064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139774960	chr9:13377065-13377066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528285405	chr9:13377069-13377070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13375800-13376400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr9:13376400-13377400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:13376800-13378600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:13376800-13378800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:13377000-13377800	Enhancers	Osteobl	bone
6	chr9:13377200-13377600	Enhancers	HUVEC	blood vessel
7	chr9:13377200-13378800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:13377200-13378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:13377200-13378800	Enhancers	HSMM	muscle
10	chr9:13377200-13378800	Enhancers	HSMMtube	muscle
11	chr9:13377400-13377800	Enhancers	Ovary	ovary
12	chr9:13377400-13377800	Enhancers	NH-A	brain
13	chr9:13377400-13378600	Enhancers	Colon Smooth Muscle	Colon
14	chr9:13377600-13377800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr9:13377600-13383000	Weak transcription	HUVEC	blood vessel
16	chr9:13377800-13378000	Enhancers	NHDF-Ad	bronchial
17	chr9:13377800-13378600	Weak transcription	Osteobl	bone
18	chr9:13377800-13378800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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