Variant report

Variant	esv3403685
Chromosome Location	chr9:12962252-12963900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532472964	chr9:12962285-12962286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368527432	chr9:12962318-12962319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10809870	chr9:12962329-12962330	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569046844	chr9:12962355-12962356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185382932	chr9:12962372-12962373	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548180613	chr9:12962389-12962390	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557452809	chr9:12962407-12962408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567767241	chr9:12962418-12962419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34847303	chr9:12962429-12962430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536251374	chr9:12962437-12962438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114598052	chr9:12962450-12962451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573434760	chr9:12962453-12962454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545653021	chr9:12962457-12962458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558838064	chr9:12962458-12962459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568098843	chr9:12962523-12962524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575392419	chr9:12962570-12962571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533749893	chr9:12962591-12962592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544404849	chr9:12962636-12962637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71507353	chr9:12962659-12962660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147550905	chr9:12962674-12962675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539832120	chr9:12962694-12962695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7859146	chr9:12962695-12962696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200014470	chr9:12962728-12962729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71499194	chr9:12962748-12962749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532034224	chr9:12962749-12962750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190678850	chr9:12962775-12962776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371279438	chr9:12962800-12962801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369658931	chr9:12962801-12962802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs33921169	chr9:12962803-12962804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538542174	chr9:12962809-12962810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182302891	chr9:12962820-12962821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186084562	chr9:12962825-12962826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7874998	chr9:12962826-12962827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190758437	chr9:12962827-12962828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7470801	chr9:12962833-12962834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552467624	chr9:12962840-12962841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13298237	chr9:12962841-12962842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370365688	chr9:12962844-12962845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74219990	chr9:12962847-12962848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377663031	chr9:12962848-12962849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575105509	chr9:12962853-12962854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531490306	chr9:12962855-12962856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2382381	chr9:12962862-12962863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2149550	chr9:12962869-12962870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74185740	chr9:12962870-12962871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2382382	chr9:12962871-12962872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370663157	chr9:12962876-12962877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74207787	chr9:12962878-12962879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71331515	chr9:12962883-12962884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10809871	chr9:12962887-12962888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12958800-12965400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:12959200-12962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:12959400-12963600	Weak transcription	Liver	Liver
4	chr9:12959600-12963200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:12959600-12963200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:12961400-12962600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:12961600-12962400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:12961600-12964400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:12961800-12962600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:12961800-12964000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:12961800-12968200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:12962400-12983800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:12962600-12968200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:12962600-12968200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:12963400-12963800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:12963400-12964000	Enhancers	Dnd41	blood
17	chr9:12963400-12964200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:12963600-12964600	Enhancers	HSMMtube	muscle
19	chr9:12963600-12965400	Enhancers	Liver	Liver
20	chr9:12963800-12965000	Enhancers	Fetal Heart	heart

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