Variant report

Variant	nsv526362
Chromosome Location	chr9:10773858-10790580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:10789715-10790204	HepG2	liver:	n/a	chr9:10790076-10790087
2	EP300	chr9:10790125-10790148	K562	blood:	n/a	n/a
3	JUND	chr9:10776816-10777076	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:10785287-10785779	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr9:10775348-10775351	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr9:10785214-10785660	H1-neurons	neurons:	n/a	n/a
7	RAD21	chr9:10790523-10790624	H1-hESC	embryonic stem cell:	n/a	n/a
8	SPI1	chr9:10773402-10773860	HL-60	blood:	n/a	n/a
9	STAT3	chr9:10776549-10776559	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr9:10776900-10776904	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr9:10785388-10785562	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr9:10785477-10785494	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000227138	TF binding region

Extended variants
information (count: 119 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16926439	chr9:10773858-10773859	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7855542	chr9:10773892-10773893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556118540	chr9:10773906-10773907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531504002	chr9:10773914-10773915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184271636	chr9:10773924-10773925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117609005	chr9:10773930-10773931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369828454	chr9:10773958-10773959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527511141	chr9:10773963-10773964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547260508	chr9:10773980-10773981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72704856	chr9:10774031-10774032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76302447	chr9:10774047-10774048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189419833	chr9:10774060-10774061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113041254	chr9:10774074-10774075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62537552	chr9:10774102-10774103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112583169	chr9:10774104-10774105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75804060	chr9:10774105-10774106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536174176	chr9:10774117-10774118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376905024	chr9:10774121-10774122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112549822	chr9:10774144-10774145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12005877	chr9:10774154-10774155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185998756	chr9:10774176-10774177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150123482	chr9:10774178-10774179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563301092	chr9:10774186-10774187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138431833	chr9:10774215-10774216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545444505	chr9:10774218-10774219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575233409	chr9:10774219-10774220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374021217	chr9:10774220-10774221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575605310	chr9:10774284-10774285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111254691	chr9:10774301-10774302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541404364	chr9:10774340-10774341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561682058	chr9:10774348-10774349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561821882	chr9:10774352-10774353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574154911	chr9:10774356-10774357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527581963	chr9:10774366-10774367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57553059	chr9:10774370-10774371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543252321	chr9:10774477-10774478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117042182	chr9:10774492-10774493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149250826	chr9:10774520-10774521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550265376	chr9:10774524-10774525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570086185	chr9:10774528-10774529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535876686	chr9:10774555-10774556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549379830	chr9:10774582-10774583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566400206	chr9:10774593-10774594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146172826	chr9:10774597-10774598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558333859	chr9:10774616-10774617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10511555	chr9:10774641-10774642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189277379	chr9:10774686-10774687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180848769	chr9:10774696-10774697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547272466	chr9:10774709-10774710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559542676	chr9:10774710-10774711	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
XY gonadal dysgenesis	20685758	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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10773000-10775000	Enhancers	Fetal Brain Female	brain
2	chr9:10773200-10774400	Enhancers	Fetal Lung	lung
3	chr9:10775600-10775800	Enhancers	Fetal Brain Male	brain
4	chr9:10790200-10790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:10790400-10791600	ZNF genes & repeats	Pancreas	Pancrea

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