Variant report

Variant	nsv8539
Chromosome Location	chr9:86446577-86449422
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	chr9:86448200-86448244	MCF-7	breast:	n/a	n/a
2	POLR2A	chr9:86446679-86446773	A549	lung:	n/a	n/a
3	POLR2A	chr9:86447736-86447760	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86236750..86239117-chr9:86447566..86449894,2	MCF-7	breast:
2	chr9:86321607..86323730-chr9:86445405..86447358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226877	TF binding region
GKAP1	TF binding region
ENSG00000135018	chromatin interactions
ENSG00000254473	chromatin interactions
ENSG00000148057	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551493518	chr9:86446591-86446592	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567969026	chr9:86446618-86446619	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs33957599	chr9:86446619-86446620	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs397761484	chr9:86446630-86446631	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569802865	chr9:86446636-86446637	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111312517	chr9:86446673-86446674	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572266545	chr9:86446697-86446698	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs534946259	chr9:86446705-86446706	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536232838	chr9:86446712-86446713	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537014445	chr9:86446734-86446735	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs555416596	chr9:86446895-86446896	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368901859	chr9:86446901-86446902	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143036602	chr9:86446904-86446905	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554493209	chr9:86446933-86446934	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs295289	chr9:86446938-86446939	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191763512	chr9:86446941-86446942	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183617078	chr9:86446948-86446949	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571398039	chr9:86446956-86446957	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576152122	chr9:86446984-86446985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543379190	chr9:86447001-86447002	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199559836	chr9:86447027-86447028	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111891387	chr9:86447061-86447062	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545292145	chr9:86447076-86447077	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529142239	chr9:86447125-86447126	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186572761	chr9:86447144-86447145	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559640942	chr9:86447163-86447164	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191518665	chr9:86447164-86447165	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372834978	chr9:86447167-86447168	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs371109862	chr9:86447181-86447182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182557487	chr9:86447254-86447255	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186936440	chr9:86447255-86447256	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565203633	chr9:86447269-86447270	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548952079	chr9:86447286-86447287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs202013973	chr9:86447599-86447600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2780122	chr9:86447604-86447605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs295290	chr9:86447605-86447606	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112517081	chr9:86447709-86447710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541450099	chr9:86447752-86447753	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559366405	chr9:86447791-86447792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34802791	chr9:86447792-86447793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533279212	chr9:86447818-86447819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545181997	chr9:86447819-86447820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563475735	chr9:86447828-86447829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148605229	chr9:86447863-86447864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187858695	chr9:86447890-86447891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193023694	chr9:86447905-86447906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567387213	chr9:86447911-86447912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185301887	chr9:86447954-86447955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546595966	chr9:86447973-86447974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566209161	chr9:86448061-86448062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86447800-86461200	Weak transcription	Fetal Brain Female	brain
2	chr9:86447800-86470800	Weak transcription	Brain Germinal Matrix	brain
3	chr9:86448600-86458800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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