Variant report

Variant	esv2762829
Chromosome Location	chr9:115787041-115790676
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	chr9:115785171..115787186-chr9:115793966..115796289,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370189666	chr9:115787601-115787602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571702311	chr9:115787621-115787622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540575220	chr9:115787632-115787633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs80307123	chr9:115787648-115787649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532856195	chr9:115787666-115787667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549873159	chr9:115787685-115787686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563710861	chr9:115787699-115787700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115817414	chr9:115787726-115787727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549688913	chr9:115787805-115787806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559251349	chr9:115787808-115787809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181380256	chr9:115787818-115787819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs10117845	chr9:115787828-115787829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551765320	chr9:115787833-115787834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571636129	chr9:115787838-115787839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537127421	chr9:115787864-115787865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369055848	chr9:115787876-115787877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372050672	chr9:115787906-115787907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs16917694	chr9:115787955-115787956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185267807	chr9:115787971-115787972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148634881	chr9:115787992-115787993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190023131	chr9:115788001-115788002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540944727	chr9:115788016-115788017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183207845	chr9:115788025-115788026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577598450	chr9:115788136-115788137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187499764	chr9:115788151-115788152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144448551	chr9:115788188-115788189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373714782	chr9:115788220-115788221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs58141788	chr9:115788233-115788234	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191479000	chr9:115788265-115788266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560003615	chr9:115788359-115788360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183585974	chr9:115788362-115788363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs552130077	chr9:115788446-115788447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571535931	chr9:115788470-115788471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10817429	chr9:115788476-115788477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550791431	chr9:115788485-115788486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188520425	chr9:115788539-115788540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575832968	chr9:115788548-115788549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536354749	chr9:115788560-115788561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191647280	chr9:115788578-115788579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554191316	chr9:115789238-115789239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540893801	chr9:115789247-115789248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140200424	chr9:115789257-115789258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10981602	chr9:115789267-115789268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531112239	chr9:115789328-115789329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9299213	chr9:115789373-115789374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570265940	chr9:115789380-115789381	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115787600-115788400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr9:115788400-115788600	Enhancers	Osteobl	bone
3	chr9:115789200-115789400	Enhancers	Osteobl	bone

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