Variant report

Variant	esv3391214
Chromosome Location	chr9:110876981-110879229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:110248941..110251863-chr9:110878808..110881491,3	MCF-7	breast:
2	chr9:110248109..110252233-chr9:110878259..110882011,4	MCF-7	breast:
3	chr9:110878353..110880845-chr9:110882661..110885417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566936212	chr9:110877005-110877006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553759996	chr9:110877014-110877015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539930339	chr9:110877035-110877036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1999454	chr9:110877036-110877037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576524678	chr9:110877069-110877070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571002978	chr9:110877082-110877083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538523331	chr9:110877127-110877128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556539448	chr9:110877153-110877154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148498290	chr9:110877185-110877186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142986318	chr9:110877195-110877196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1999455	chr9:110877196-110877197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28710298	chr9:110877220-110877221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573840258	chr9:110877234-110877235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76098155	chr9:110877248-110877249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556077766	chr9:110877269-110877270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531362814	chr9:110877273-110877274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151103814	chr9:110877280-110877281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1999456	chr9:110877304-110877305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529216654	chr9:110877306-110877307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548587074	chr9:110877329-110877330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566899793	chr9:110877343-110877344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56184466	chr9:110877352-110877353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552744052	chr9:110877391-110877392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374672979	chr9:110877431-110877432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56736461	chr9:110877439-110877440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563550582	chr9:110877440-110877441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60274465	chr9:110877441-110877442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545105084	chr9:110877445-110877446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188175795	chr9:110877478-110877479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61349133	chr9:110877508-110877509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370405253	chr9:110877532-110877533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550371843	chr9:110877552-110877553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568629259	chr9:110877557-110877558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56259808	chr9:110877562-110877563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562917286	chr9:110877604-110877605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571757794	chr9:110877645-110877646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547181413	chr9:110877652-110877653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539054239	chr9:110877659-110877660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568648361	chr9:110877672-110877673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557519475	chr9:110877697-110877698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79771502	chr9:110877704-110877705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543215093	chr9:110877711-110877712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572090872	chr9:110877773-110877774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59705661	chr9:110877823-110877824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573960954	chr9:110877824-110877825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115237224	chr9:110877840-110877841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577096400	chr9:110877907-110877908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560487819	chr9:110877990-110877991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201482659	chr9:110877997-110877998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200911996	chr9:110877998-110877999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110863200-110881600	Weak transcription	Gastric	stomach
2	chr9:110867400-110880200	Weak transcription	Esophagus	oesophagus
3	chr9:110867600-110881600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:110868600-110899800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:110872600-110878200	Weak transcription	Stomach Mucosa	stomach
6	chr9:110876800-110883800	Weak transcription	K562	blood
7	chr9:110878200-110878600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:110878200-110883000	Enhancers	Stomach Mucosa	stomach

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