Variant report

Variant	esv2553986
Chromosome Location	chr9:71894908-71897473
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	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:
2	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534313227	chr9:71894933-71894934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57032278	chr9:71894955-71894956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140354306	chr9:71894988-71894989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191958728	chr9:71895013-71895014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150341807	chr9:71895018-71895019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144993439	chr9:71895025-71895026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76738336	chr9:71895040-71895041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4271031	chr9:71895047-71895048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558778364	chr9:71895104-71895105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577211148	chr9:71895271-71895272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117576926	chr9:71895318-71895319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369480251	chr9:71895335-71895336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56108228	chr9:71895369-71895370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542084087	chr9:71895425-71895426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55763820	chr9:71895545-71895546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367611205	chr9:71895717-71895718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563550172	chr9:71895911-71895912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56030094	chr9:71895950-71895951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183536732	chr9:71895990-71895991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552297534	chr9:71896077-71896078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188190369	chr9:71896585-71896586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148962969	chr9:71896718-71896719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546299498	chr9:71896745-71896746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534884661	chr9:71896776-71896777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191846846	chr9:71896782-71896783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557243091	chr9:71896783-71896784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569117255	chr9:71896788-71896789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539245574	chr9:71896815-71896816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201062042	chr9:71896884-71896885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555993548	chr9:71896886-71896887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143706606	chr9:71896897-71896898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577247427	chr9:71896942-71896943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527335644	chr9:71896966-71896967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78840464	chr9:71897016-71897017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567252355	chr9:71897017-71897018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138334480	chr9:71897029-71897030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28432228	chr9:71897043-71897044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28614156	chr9:71897046-71897047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111414312	chr9:71897047-71897048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10867283	chr9:71897050-71897051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78132869	chr9:71897051-71897052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144922949	chr9:71897055-71897056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574451821	chr9:71897095-71897096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542120992	chr9:71897099-71897100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563636772	chr9:71897131-71897132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374520345	chr9:71897149-71897150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531177372	chr9:71897160-71897161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546057986	chr9:71897181-71897182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386734784	chr9:71897239-71897240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7030339	chr9:71897240-71897241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Melanoma	22183965	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
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71894200-71895000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr9:71894800-71895000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr9:71894800-71895000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:71894800-71895000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:71894800-71895200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:71895000-71897400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:71895000-71898000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:71895200-71897400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:71897400-71897600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:71897400-71897800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:71897400-71898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:71897400-71899000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:71897400-71899000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:71897400-71899400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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