Variant report

Variant	nsv614858
Chromosome Location	chr9:94395522-94403128
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	chr9:94400712-94400748	HepG2	liver:	n/a	n/a
2	CTCF	chr9:94395601-94395609	MCF-7	breast:	n/a	n/a
3	CTCF	chr9:94401380-94401530	NHEK	skin:	n/a	n/a
4	CTCF	chr9:94395548-94395678	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:94395570-94395669	MCF-7	breast:	n/a	n/a
6	CTCF	chr9:94395480-94395630	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:94401360-94401510	WERI-Rb-1	eye:	n/a	n/a
8	EGR1	chr9:94397213-94397358	K562	blood:	n/a	n/a
9	FOXA1	chr9:94395941-94396158	T-47D	breast:	n/a	n/a
10	MYC	chr9:94395540-94395666	MCF-7	breast:	n/a	n/a
11	STAT3	chr9:94400494-94400702	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr9:94402833-94402908	MCF10A-Er-Src	breast:	n/a	n/a
13	USF1	chr9:94402789-94403058	K562	blood:	n/a	chr9:94402916-94402927
14	USF1	chr9:94402745-94403069	K562	blood:	n/a	chr9:94402916-94402927
15	USF1	chr9:94402833-94402970	HepG2	liver:	n/a	chr9:94402916-94402927
16	USF2	chr9:94402770-94403090	HepG2	liver:	n/a	n/a
17	ZNF263	chr9:94397202-94397470	HEK293-T-REx	kidney:	n/a	chr9:94397353-94397374

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3910	chr9:94398595-94398614	MIMAT0018184
hsa-miR-3910	chr9:94398559-94398578	MIMAT0018184_1

Variant related genes	Relation type
MIR3910-2	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12340405	chr9:94395522-94395523	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9409445	chr9:94395569-94395570	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187270477	chr9:94395602-94395603	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9409446	chr9:94395603-94395604	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148519791	chr9:94395606-94395607	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534806619	chr9:94395607-94395608	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553084392	chr9:94395617-94395618	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190339953	chr9:94395642-94395643	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542455341	chr9:94395709-94395710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9409447	chr9:94395718-94395719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575900240	chr9:94395738-94395739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4379560	chr9:94395743-94395744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572471680	chr9:94395763-94395764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114385537	chr9:94395802-94395803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558097814	chr9:94395803-94395804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532181949	chr9:94395838-94395839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181568274	chr9:94395851-94395852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559538100	chr9:94395859-94395860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1873747	chr9:94395860-94395861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
20	rs376850635	chr9:94395994-94395995	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1492682	chr9:94396059-94396060	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576378253	chr9:94396068-94396069	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117526615	chr9:94396113-94396114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs1492683	chr9:94396124-94396125	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7855529	chr9:94396138-94396139	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185467857	chr9:94396149-94396150	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534723395	chr9:94396156-94396157	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs552943372	chr9:94396157-94396158	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543059934	chr9:94396299-94396300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190274946	chr9:94396309-94396310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151064995	chr9:94396315-94396316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557556072	chr9:94396363-94396364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7852614	chr9:94396366-94396367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72744411	chr9:94396367-94396368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375895339	chr9:94396374-94396375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540011348	chr9:94396387-94396388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558519756	chr9:94396404-94396405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113366928	chr9:94396426-94396427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139129111	chr9:94396458-94396459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541067875	chr9:94396483-94396484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9696915	chr9:94396484-94396485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182521833	chr9:94396492-94396493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541531966	chr9:94396494-94396495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74893506	chr9:94396499-94396500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10992021	chr9:94396561-94396562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115942273	chr9:94396583-94396584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564084107	chr9:94396593-94396594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116856620	chr9:94396603-94396604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560675040	chr9:94396641-94396642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546596793	chr9:94396656-94396657	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94395600-94397000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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