Variant report

Variant	esv3483411
Chromosome Location	chr9:43502556-43507854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2491496	chr9:43502579-43502580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10907620	chr9:43502593-43502594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145869065	chr9:43502615-43502616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529641284	chr9:43502636-43502637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190288262	chr9:43502644-43502645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2491495	chr9:43502684-43502685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569479814	chr9:43502694-43502695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539989706	chr9:43502698-43502699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552321312	chr9:43502738-43502739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370938063	chr9:43502779-43502780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570526546	chr9:43502780-43502781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534403350	chr9:43502788-43502789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186279582	chr9:43502836-43502837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142345698	chr9:43502929-43502930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191798573	chr9:43502996-43502997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556790708	chr9:43503003-43503004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150100992	chr9:43503178-43503179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575118884	chr9:43503242-43503243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545560041	chr9:43503288-43503289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546175883	chr9:43503442-43503443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563926198	chr9:43503489-43503490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368589576	chr9:43503762-43503763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573317724	chr9:43503767-43503768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371003449	chr9:43503773-43503774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540370747	chr9:43503788-43503789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2491492	chr9:43503859-43503860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2247012	chr9:43503860-43503861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562881474	chr9:43503904-43503905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562155716	chr9:43503960-43503961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9645015	chr9:43503976-43503977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2998486	chr9:43503992-43503993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543498375	chr9:43504032-43504033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371457313	chr9:43504038-43504039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529229068	chr9:43504040-43504041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374925965	chr9:43504047-43504048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577119839	chr9:43504052-43504053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567947390	chr9:43504060-43504061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563146340	chr9:43504064-43504065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368133889	chr9:43504101-43504102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371858514	chr9:43504117-43504118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184040156	chr9:43504180-43504181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567048276	chr9:43504205-43504206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534762106	chr9:43504216-43504217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188963617	chr9:43504225-43504226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546368698	chr9:43504239-43504240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2998485	chr9:43504270-43504271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2998484	chr9:43504283-43504284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193043822	chr9:43504290-43504291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117525573	chr9:43504296-43504297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2998483	chr9:43504299-43504300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43491200-43505400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:43491200-43505800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:43505400-43505600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:43505400-43506000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:43505400-43506400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:43505400-43507000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:43505600-43506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:43505600-43506000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:43505600-43506200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:43505600-43507000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:43505800-43506000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:43505800-43506200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:43506000-43506200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:43506000-43506800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:43506000-43506800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:43506200-43506800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:43506400-43506800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:43506800-43507000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr9:43506800-43507200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr9:43506800-43507400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:43506800-43507400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:43507000-43507400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:43507000-43507400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:43507000-43508400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:43507200-43507400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr9:43507400-43507600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:43507400-43508200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:43507400-43508200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:43507600-43508000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:43507600-43508000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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