Variant report

Variant	nsv824855
Chromosome Location	chr9:11004776-11011249
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	CTCF	chr9:11009607-11009644	GM10248	blood:	n/a	n/a
2	POLR2A	chr9:11010249-11010419	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr9:11010994-11014169	K562	blood:	n/a	n/a
4	POLR2A	chr9:11011146-11012585	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr9:11008247-11009177	K562	blood:	n/a	n/a
6	POLR2A	chr9:11006132-11006971	K562	blood:	n/a	n/a
7	POLR2A	chr9:11007376-11007961	K562	blood:	n/a	n/a
8	STAT3	chr9:11008639-11008963	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000234146	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7851350	chr9:11006781-11006782	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149900103	chr9:11006784-11006785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7865064	chr9:11006812-11006813	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs62536532	chr9:11006845-11006846	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554988433	chr9:11006847-11006848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544221108	chr9:11006857-11006858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7865201	chr9:11006861-11006862	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571571909	chr9:11006913-11006914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs59746146	chr9:11006926-11006927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570397086	chr9:11006946-11006947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534611256	chr9:11006960-11006961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7851603	chr9:11006971-11006972	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370803401	chr9:11007387-11007388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182619810	chr9:11007411-11007412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs4375094	chr9:11007446-11007447	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546659749	chr9:11007489-11007490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566460347	chr9:11007516-11007517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4304418	chr9:11007540-11007541	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552361979	chr9:11007542-11007543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569147369	chr9:11007545-11007546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs4288457	chr9:11007548-11007549	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535212043	chr9:11007576-11007577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554868871	chr9:11007642-11007643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs386732609	chr9:11007683-11007684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199851110	chr9:11007684-11007685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192041647	chr9:11007708-11007709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577272194	chr9:11007728-11007729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs80247955	chr9:11007732-11007733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs561465073	chr9:11007740-11007741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73398885	chr9:11007751-11007752	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75784169	chr9:11007756-11007757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561064449	chr9:11007791-11007792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs201261922	chr9:11007795-11007796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374153105	chr9:11007797-11007798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539869587	chr9:11007819-11007820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560152191	chr9:11007828-11007829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532068817	chr9:11007838-11007839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11999466	chr9:11007864-11007865	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12001553	chr9:11007873-11007874	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140403082	chr9:11007890-11007891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184925491	chr9:11007893-11007894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10959450	chr9:11007904-11007905	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534147631	chr9:11007913-11007914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142632101	chr9:11007914-11007915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552513746	chr9:11007937-11007938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs577899600	chr9:11007953-11007954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12216893	chr9:11007955-11007956	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188887791	chr9:11007956-11007957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575496210	chr9:11007960-11007961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531758536	chr9:11008275-11008276	Inactive region	TF binding region	1 gene(s)	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:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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