Variant report

Variant	esv3483189
Chromosome Location	chr9:107874932-107875636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386737186	chr9:107874936-107874937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111940035	chr9:107874937-107874938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374153018	chr9:107874955-107874956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376768507	chr9:107874957-107874958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369501555	chr9:107874963-107874964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372568477	chr9:107874982-107874983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370336169	chr9:107874994-107874995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527506404	chr9:107874998-107874999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377053929	chr9:107875003-107875004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559910657	chr9:107875023-107875024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185581373	chr9:107875027-107875028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371093850	chr9:107875034-107875035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373566653	chr9:107875046-107875047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558802909	chr9:107875050-107875051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376459048	chr9:107875059-107875060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112099029	chr9:107875080-107875081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531666153	chr9:107875130-107875131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111380056	chr9:107875138-107875139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372193298	chr9:107875153-107875154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199572191	chr9:107875180-107875181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201265717	chr9:107875182-107875183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568162952	chr9:107875213-107875214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143942161	chr9:107875276-107875277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553865572	chr9:107875278-107875279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566137798	chr9:107875282-107875283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539528668	chr9:107875305-107875306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146878187	chr9:107875325-107875326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576554013	chr9:107875338-107875339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199797923	chr9:107875357-107875358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140693702	chr9:107875377-107875378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534151705	chr9:107875383-107875384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376748796	chr9:107875450-107875451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574497314	chr9:107875466-107875467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541809322	chr9:107875493-107875494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560009181	chr9:107875507-107875508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73521925	chr9:107875570-107875571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545563559	chr9:107875585-107875586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537771973	chr9:107875591-107875592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12346762	chr9:107875603-107875604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373678050	chr9:107875610-107875611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367820930	chr9:107875613-107875614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147972412	chr9:107875626-107875627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10820786	chr9:107875631-107875632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529271653	chr9:107875635-107875636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:107866600-107876800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:107875200-107875400	Enhancers	Spleen	Spleen
3	chr9:107875200-107877800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:107875400-107876400	Weak transcription	Spleen	Spleen

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