Variant report

Variant	nsv982613
Chromosome Location	chr9:11019439-11026009
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	chr9:11018319..11020122-chr9:11028284..11030426,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562406370	chr9:11021814-11021815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187669895	chr9:11021837-11021838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10756163	chr9:11021845-11021846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550538531	chr9:11021846-11021847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567355775	chr9:11021856-11021857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536308743	chr9:11021923-11021924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548019185	chr9:11021941-11021942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546213845	chr9:11021954-11021955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191104744	chr9:11021976-11021977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184024447	chr9:11021999-11022000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370851200	chr9:11022003-11022004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558017037	chr9:11022013-11022014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577981232	chr9:11022034-11022035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10959464	chr9:11022051-11022052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115706121	chr9:11022059-11022060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573588594	chr9:11022086-11022087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142956713	chr9:11022102-11022103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559416383	chr9:11022109-11022110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188702051	chr9:11022122-11022123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151095201	chr9:11022139-11022140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10959465	chr9:11022146-11022147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191661367	chr9:11022151-11022152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185279681	chr9:11022152-11022153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549561584	chr9:11022162-11022163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567501833	chr9:11022171-11022172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530128342	chr9:11022182-11022183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113104833	chr9:11022272-11022273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566940405	chr9:11022288-11022289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182173526	chr9:11022301-11022302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551597228	chr9:11022314-11022315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571506211	chr9:11022327-11022328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569330043	chr9:11022335-11022336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187253958	chr9:11022341-11022342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557316700	chr9:11022343-11022344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1334022	chr9:11022389-11022390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536230615	chr9:11022417-11022418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566098331	chr9:11022446-11022447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117365846	chr9:11022447-11022448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572892317	chr9:11022491-11022492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544745897	chr9:11022498-11022499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565096900	chr9:11022520-11022521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374395141	chr9:11022565-11022566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544475435	chr9:11022573-11022574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565663837	chr9:11022577-11022578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10959466	chr9:11022581-11022582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530360608	chr9:11022582-11022583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189178061	chr9:11022615-11022616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61250983	chr9:11022636-11022637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs13286992	chr9:11022647-11022648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374761488	chr9:11022652-11022653	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11021800-11023000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:11023400-11023600	Enhancers	Fetal Lung	lung

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