Variant report

Variant	esv3341245
Chromosome Location	chr9:73353332-73358130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs569441968	chr9:73353386-73353387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568009862	chr9:73353395-73353396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112390808	chr9:73353460-73353461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548447385	chr9:73353521-73353522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576384133	chr9:73353526-73353527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570030928	chr9:73353591-73353592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537232806	chr9:73353599-73353600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558756305	chr9:73353601-73353602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538540033	chr9:73353611-73353612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185658055	chr9:73353617-73353618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544183781	chr9:73353618-73353619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535160192	chr9:73353628-73353629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553195117	chr9:73353642-73353643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188859086	chr9:73353645-73353646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541873058	chr9:73353662-73353663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557275579	chr9:73353691-73353692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575636765	chr9:73353699-73353700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34806905	chr9:73353704-73353705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564311099	chr9:73353717-73353718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528286946	chr9:73353734-73353735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9776589	chr9:73353744-73353745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181287286	chr9:73353757-73353758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149660230	chr9:73353771-73353772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552626776	chr9:73353782-73353783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550196714	chr9:73353788-73353789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572646718	chr9:73353789-73353790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114758225	chr9:73353819-73353820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531156356	chr9:73353827-73353828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561730712	chr9:73353840-73353841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570977201	chr9:73353857-73353858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11507229	chr9:73353878-73353879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547035661	chr9:73353896-73353897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575399401	chr9:73353899-73353900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141499819	chr9:73353906-73353907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568493781	chr9:73353912-73353913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535825829	chr9:73353919-73353920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185146182	chr9:73353936-73353937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544513549	chr9:73353949-73353950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575598029	chr9:73353966-73353967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140394627	chr9:73353985-73353986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558090448	chr9:73353996-73353997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572968000	chr9:73354090-73354091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540071476	chr9:73354166-73354167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117269376	chr9:73354186-73354187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573683402	chr9:73354250-73354251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191087315	chr9:73354251-73354252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562184977	chr9:73354264-73354265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532775969	chr9:73354266-73354267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144128466	chr9:73354298-73354299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564639534	chr9:73354301-73354302	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73352800-73367600	Weak transcription	Fetal Kidney	kidney
2	chr9:73355400-73356000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr9:73355600-73357400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:73356000-73364800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:73356600-73368800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:73356800-73376000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:73357400-73358600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:73357800-73362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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