Variant report

Variant	nsv1034326
Chromosome Location	chr9:11633417-11679525
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	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
2	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140457266	chr9:11633442-11633443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531127546	chr9:11633478-11633479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145458695	chr9:11633507-11633508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368397749	chr9:11633571-11633572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78500325	chr9:11633578-11633579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73397510	chr9:11633580-11633581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190501855	chr9:11633592-11633593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549152421	chr9:11650217-11650218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185516676	chr9:11650246-11650247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141616402	chr9:11650260-11650261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150501430	chr9:11650262-11650263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566195924	chr9:11650269-11650270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538365733	chr9:11650287-11650288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138652451	chr9:11650314-11650315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568494166	chr9:11650320-11650321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537481540	chr9:11650342-11650343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555199584	chr9:11650351-11650352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527750592	chr9:11650408-11650409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575043263	chr9:11650410-11650411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149312386	chr9:11650424-11650425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116315155	chr9:11650428-11650429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144574145	chr9:11650452-11650453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2586380	chr9:11650459-11650460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563010782	chr9:11650473-11650474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531735595	chr9:11650488-11650489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547428730	chr9:11650495-11650496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73397557	chr9:11650501-11650502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139657245	chr9:11650514-11650515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529959116	chr9:11650544-11650545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541194482	chr9:11650545-11650546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532740995	chr9:11650551-11650552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113725856	chr9:11650588-11650589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191914081	chr9:11650593-11650594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550992494	chr9:11650596-11650597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183299923	chr9:11650600-11650601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545360576	chr9:11656016-11656017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369378988	chr9:11656021-11656022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527969080	chr9:11656040-11656041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565518026	chr9:11656046-11656047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113535617	chr9:11656055-11656056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571049192	chr9:11656134-11656135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540070382	chr9:11656200-11656201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556335657	chr9:11656204-11656205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181439918	chr9:11656215-11656216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111299406	chr9:11656232-11656233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186544276	chr9:11656248-11656249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555360367	chr9:11656306-11656307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572132630	chr9:11656312-11656313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540119093	chr9:11656325-11656326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148818384	chr9:11656332-11656333	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
abnormal development	18461090	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
Schizophrenia	18511947	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11633200-11633600	Enhancers	Fetal Brain Male	brain
2	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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