Variant report

Variant	esv3385790
Chromosome Location	chr9:73646825-73647147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373458251	chr9:73646874-73646875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200868063	chr9:73646875-73646876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72340097	chr9:73646876-73646877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368919012	chr9:73646878-73646879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372414119	chr9:73646880-73646881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369754210	chr9:73646884-73646885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12552758	chr9:73646888-73646889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376714552	chr9:73646895-73646896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370856557	chr9:73646897-73646898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372856948	chr9:73646901-73646902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77731943	chr9:73646904-73646905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111853657	chr9:73646909-73646910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377461969	chr9:73646910-73646911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374671884	chr9:73646911-73646912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371152900	chr9:73646915-73646916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375322902	chr9:73646917-73646918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372224250	chr9:73646918-73646919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368361090	chr9:73646920-73646921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74494247	chr9:73646923-73646924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77443778	chr9:73646929-73646930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs812671	chr9:73646931-73646932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28539888	chr9:73646932-73646933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150033376	chr9:73646935-73646936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375300563	chr9:73646937-73646938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7024585	chr9:73646942-73646943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7021303	chr9:73646943-73646944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12552481	chr9:73646944-73646945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367885538	chr9:73646948-73646949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7021307	chr9:73646949-73646950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377257311	chr9:73646950-73646951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199927962	chr9:73646952-73646953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371390562	chr9:73646957-73646958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372672365	chr9:73646958-73646959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375925037	chr9:73646963-73646964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1087365	chr9:73646966-73646967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374673066	chr9:73646970-73646971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369952863	chr9:73646978-73646979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372235814	chr9:73646979-73646980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376602754	chr9:73646983-73646984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7024690	chr9:73646984-73646985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373512981	chr9:73646988-73646989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12342297	chr9:73646989-73646990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28550611	chr9:73646993-73646994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368951058	chr9:73646994-73646995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377560425	chr9:73646999-73647000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28623418	chr9:73647000-73647001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373297517	chr9:73647001-73647002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12552773	chr9:73647004-73647005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377370362	chr9:73647005-73647006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374563905	chr9:73647007-73647008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73641600-73652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:73643800-73684000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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