Variant report

Variant	esv3382610
Chromosome Location	chr9:98798281-98800379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98800086..98802107-chr9:98802951..98805065,2	K562	blood:
2	chr9:98793079..98797604-chr9:98797988..98801744,7	MCF-7	breast:
3	chr9:98799452..98800997-chr9:98990617..98993276,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554773937	chr9:98798294-98798295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376287765	chr9:98798308-98798309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576559647	chr9:98798323-98798324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546897539	chr9:98798377-98798378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370506069	chr9:98798400-98798401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565270895	chr9:98798433-98798434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532891369	chr9:98798487-98798488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541725421	chr9:98798488-98798489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116158567	chr9:98798548-98798549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530250147	chr9:98798558-98798559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548725577	chr9:98798571-98798572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569694030	chr9:98798577-98798578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530509602	chr9:98798578-98798579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551788286	chr9:98798588-98798589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570091814	chr9:98798618-98798619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78513472	chr9:98798638-98798639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548167221	chr9:98798685-98798686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62559796	chr9:98798736-98798737	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75081464	chr9:98798747-98798748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557117141	chr9:98798784-98798785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576651225	chr9:98798785-98798786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562119692	chr9:98798926-98798927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79194311	chr9:98798941-98798942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182043863	chr9:98799010-98799011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541384524	chr9:98799021-98799022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376440816	chr9:98799023-98799024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559484992	chr9:98799039-98799040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201583428	chr9:98799042-98799043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201535314	chr9:98799045-98799046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200171814	chr9:98799051-98799052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201487645	chr9:98799055-98799056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575846215	chr9:98799059-98799060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542095895	chr9:98799060-98799061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13283633	chr9:98799088-98799089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530546322	chr9:98799110-98799111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555030317	chr9:98799114-98799115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573209745	chr9:98799115-98799116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540537388	chr9:98799118-98799119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561780805	chr9:98799209-98799210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551874274	chr9:98799210-98799211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570177687	chr9:98799238-98799239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374904082	chr9:98799241-98799242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368485272	chr9:98799250-98799251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12340954	chr9:98799279-98799280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs544837766	chr9:98799290-98799291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141645158	chr9:98799337-98799338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368657889	chr9:98799358-98799359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563071109	chr9:98799388-98799389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535730897	chr9:98799429-98799430	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550537109	chr9:98799438-98799439	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98790800-98810800	Weak transcription	Brain Angular Gyrus	brain
2	chr9:98793600-98800800	Weak transcription	Brain Substantia Nigra	brain
3	chr9:98793600-98804600	Weak transcription	Fetal Heart	heart
4	chr9:98794400-98801000	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:98794600-98799400	Weak transcription	Pancreas	Pancrea
6	chr9:98796800-98802000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:98798000-98800600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:98798200-98799400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:98798200-98801000	Weak transcription	Fetal Lung	lung
10	chr9:98798600-98798800	ZNF genes & repeats	Fetal Brain Male	brain
11	chr9:98798800-98802400	Weak transcription	Fetal Brain Male	brain
12	chr9:98799200-98804600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:98799400-98800000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:98799400-98800000	Enhancers	Pancreas	Pancrea

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