Variant report

Variant	esv3348607
Chromosome Location	chr9:73299482-73302955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:73295277..73297439-chr9:73299280..73301528,2	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572972021	chr9:73299491-73299492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201016746	chr9:73299511-73299512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576697602	chr9:73299519-73299520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577487501	chr9:73299532-73299533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541578559	chr9:73299536-73299537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559727200	chr9:73299538-73299539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545670091	chr9:73299539-73299540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4428729	chr9:73299561-73299562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191241355	chr9:73299572-73299573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563454944	chr9:73299578-73299579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62543301	chr9:73299585-73299586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559161893	chr9:73299587-73299588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552312120	chr9:73299595-73299596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528238441	chr9:73299638-73299639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541416619	chr9:73299643-73299644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140422808	chr9:73299648-73299649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183790420	chr9:73299687-73299688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374653368	chr9:73299731-73299732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189215182	chr9:73299737-73299738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546750592	chr9:73299740-73299741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568209651	chr9:73299785-73299786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193220680	chr9:73299794-73299795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199634676	chr9:73299809-73299810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185643930	chr9:73299829-73299830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557053831	chr9:73299894-73299895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568973502	chr9:73299910-73299911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539410410	chr9:73300131-73300132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1854272	chr9:73300239-73300240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10868873	chr9:73300255-73300256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs76920698	chr9:73300297-73300298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553525145	chr9:73300362-73300363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115166638	chr9:73300398-73300399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532964756	chr9:73300405-73300406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1328141	chr9:73300410-73300411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150068161	chr9:73300413-73300414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530927591	chr9:73300486-73300487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546163563	chr9:73300514-73300515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564353367	chr9:73300536-73300537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369375105	chr9:73300537-73300538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543364601	chr9:73300539-73300540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528382244	chr9:73300549-73300550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146625759	chr9:73300550-73300551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190155642	chr9:73300586-73300587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575282089	chr9:73300617-73300618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373106439	chr9:73300666-73300667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141367972	chr9:73300691-73300692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145097758	chr9:73300754-73300755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181719540	chr9:73300794-73300795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34969113	chr9:73300808-73300809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397961376	chr9:73300809-73300810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Melanoma	22183965	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	chr9:73295800-73310400	Weak transcription	Pancreas	Pancrea
2	chr9:73302200-73306200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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