Variant report

Variant	esv3442014
Chromosome Location	chr9:104256581-104258879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61396182	chr9:104257859-104257860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10125893	chr9:104257866-104257867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535996699	chr9:104257876-104257877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188102482	chr9:104257883-104257884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192934913	chr9:104257886-104257887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56682764	chr9:104257916-104257917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184244129	chr9:104257923-104257924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61685305	chr9:104257954-104257955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554724063	chr9:104257987-104257988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568181249	chr9:104257988-104257989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565274145	chr9:104257995-104257996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189439402	chr9:104258095-104258096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34345182	chr9:104258110-104258111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72743387	chr9:104258116-104258117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372836892	chr9:104258135-104258136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565940173	chr9:104258169-104258170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559025342	chr9:104258226-104258227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572480041	chr9:104258227-104258228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541187486	chr9:104258268-104258269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555643819	chr9:104258291-104258292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561495092	chr9:104258315-104258316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192441143	chr9:104258354-104258355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557706242	chr9:104258358-104258359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148099964	chr9:104258360-104258361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149929392	chr9:104258384-104258385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375386013	chr9:104258422-104258423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543564092	chr9:104258486-104258487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145038606	chr9:104258491-104258492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532703958	chr9:104258496-104258497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111515521	chr9:104258531-104258532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367762149	chr9:104258532-104258533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551735579	chr9:104258540-104258541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565564800	chr9:104258568-104258569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183769009	chr9:104258626-104258627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547990142	chr9:104258636-104258637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568202108	chr9:104258657-104258658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189173325	chr9:104258666-104258667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7031385	chr9:104258731-104258732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113547541	chr9:104258736-104258737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557234768	chr9:104258749-104258750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570742821	chr9:104258753-104258754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142227059	chr9:104258754-104258755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180700884	chr9:104258783-104258784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369486468	chr9:104258810-104258811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186374266	chr9:104258830-104258831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189701310	chr9:104258878-104258879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104257800-104258400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:104257800-104258400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:104257800-104258400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:104257800-104258400	Enhancers	NHEK	skin
5	chr9:104258200-104258400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:104258200-104258600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:104258200-104258600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:104258200-104258600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:104258200-104258600	Enhancers	Fetal Lung	lung
10	chr9:104258200-104258600	Enhancers	A549	lung
11	chr9:104258600-104260400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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