Variant report

Variant	esv1792396
Chromosome Location	chr9:73594114-73595547
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	chr9:73592208..73595932-chr9:73600747..73604403,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2909295	chr9:73594114-73594115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183136424	chr9:73594140-73594141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185982194	chr9:73594147-73594148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568626375	chr9:73594148-73594149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139317064	chr9:73594177-73594178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551047490	chr9:73594178-73594179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150003267	chr9:73594179-73594180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190302899	chr9:73594180-73594181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144250453	chr9:73594204-73594205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575039470	chr9:73594220-73594221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577238706	chr9:73594226-73594227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557562929	chr9:73594233-73594234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2909296	chr9:73594264-73594265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546351973	chr9:73594351-73594352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564593095	chr9:73594360-73594361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3009571	chr9:73594362-73594363	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540574062	chr9:73594364-73594365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561842602	chr9:73594378-73594379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534581113	chr9:73594424-73594425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182802918	chr9:73594501-73594502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55973930	chr9:73594565-73594566	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187873159	chr9:73594569-73594570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532951620	chr9:73594586-73594587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551235046	chr9:73594608-73594609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11142658	chr9:73594627-73594628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28697055	chr9:73594680-73594681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3124648	chr9:73594703-73594704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568684504	chr9:73594734-73594735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1558923	chr9:73594749-73594750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs71505917	chr9:73594794-73594795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71505918	chr9:73594802-73594803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540032558	chr9:73594830-73594831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557973914	chr9:73594837-73594838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3010439	chr9:73594857-73594858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553027303	chr9:73594877-73594878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540282514	chr9:73594878-73594879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555704202	chr9:73594886-73594887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573683780	chr9:73594965-73594966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142852346	chr9:73594983-73594984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10527749	chr9:73595012-73595013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371991108	chr9:73595013-73595014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544142027	chr9:73595110-73595111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79637155	chr9:73595126-73595127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1362824	chr9:73595150-73595151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2909298	chr9:73595167-73595168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1362825	chr9:73595172-73595173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182787287	chr9:73595206-73595207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142483484	chr9:73595224-73595225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567302519	chr9:73595257-73595258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561794464	chr9:73595260-73595261	Enhancers	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73593800-73594600	Weak transcription	Stomach Mucosa	stomach
2	chr9:73594000-73595600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:73594600-73595000	Enhancers	Stomach Mucosa	stomach
4	chr9:73595000-73595600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:73595000-73595800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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