Variant report

Variant	nsv818713
Chromosome Location	chr9:94396059-94406084
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	chr9:94404880-94404961	MCF-7	breast:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
3	CTCF	chr9:94405820-94405970	HCPEpiC	choroid plexus:	n/a	chr9:94405890-94405903
4	CTCF	chr9:94405840-94405990	AG04449	skin:	n/a	chr9:94405890-94405903
5	CTCF	chr9:94401380-94401530	NHEK	skin:	n/a	n/a
6	CTCF	chr9:94405888-94405922	H1-hESC	embryonic stem cell:	n/a	chr9:94405890-94405903
7	CTCF	chr9:94404920-94405070	GM06990	blood:	n/a	n/a
8	CTCF	chr9:94405760-94405910	AG09309	skin:	n/a	chr9:94405890-94405903
9	CTCF	chr9:94404903-94404948	GM12891	blood:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
10	CTCF	chr9:94405780-94405930	HPAF	blood vessel:	n/a	chr9:94405890-94405903
11	CTCF	chr9:94405880-94406030	HCPEpiC	choroid plexus:	n/a	chr9:94405890-94405903
12	CTCF	chr9:94405820-94405970	GM12873	blood:	n/a	chr9:94405890-94405903
13	CTCF	chr9:94405236-94405308	GM19240	blood:	n/a	n/a
14	CTCF	chr9:94405800-94405950	AG09319	gingival:	n/a	chr9:94405890-94405903
15	CTCF	chr9:94405740-94405890	HVMF	connective:	n/a	n/a
16	CTCF	chr9:94405820-94405970	AG04450	lung:	n/a	chr9:94405890-94405903
17	CTCF	chr9:94405780-94405930	AoAF	blood vessel:	n/a	chr9:94405890-94405903
18	CTCF	chr9:94404840-94404990	BE2_C	brain:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
19	CTCF	chr9:94404910-94404952	GM19240	blood:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
20	CTCF	chr9:94401360-94401510	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr9:94404896-94404950	MCF-7	breast:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
22	CTCF	chr9:94404881-94404960	K562	blood:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
23	CTCF	chr9:94404902-94404944	GM10248	blood:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
24	CTCF	chr9:94404871-94404975	H1-hESC	embryonic stem cell:	n/a	chr9:94404919-94404932 chr9:94404916-94404934
25	EGR1	chr9:94397213-94397358	K562	blood:	n/a	n/a
26	FOS	chr9:94406048-94406339	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr9:94406059-94406349	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA1	chr9:94395941-94396158	T-47D	breast:	n/a	n/a
29	MAX	chr9:94403719-94403967	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr9:94403657-94403881	K562	blood:	n/a	n/a
31	MEF2A	chr9:94405980-94406304	GM12878	blood:	n/a	chr9:94406172-94406193 chr9:94406177-94406194 chr9:94406178-94406189 chr9:94406176-94406192 chr9:94406176-94406191 chr9:94406177-94406192
32	NR2F2	chr9:94404893-94405473	MCF-7	breast:	n/a	n/a
33	POLR2A	chr9:94405367-94406069	Raji	blood:	n/a	n/a
34	STAT3	chr9:94400494-94400702	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr9:94402833-94402908	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF7L2	chr9:94405065-94405418	MCF-7	breast:	n/a	n/a
37	USF1	chr9:94402789-94403058	K562	blood:	n/a	chr9:94402916-94402927
38	USF1	chr9:94402745-94403069	K562	blood:	n/a	chr9:94402916-94402927
39	USF1	chr9:94402833-94402970	HepG2	liver:	n/a	chr9:94402916-94402927
40	USF2	chr9:94402770-94403090	HepG2	liver:	n/a	n/a
41	YY1	chr9:94403767-94403934	K562	blood:	n/a	n/a
42	YY1	chr9:94403660-94403986	GM12878	blood:	n/a	n/a
43	YY1	chr9:94403670-94403965	GM12892	blood:	n/a	n/a
44	ZNF217	chr9:94405076-94405411	MCF-7	breast:	n/a	n/a
45	ZNF263	chr9:94397202-94397470	HEK293-T-REx	kidney:	n/a	chr9:94397353-94397374

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94404695..94405472-chr9:94421862..94422848,3	MCF-7	breast:

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

Variant related genes	Relation type
MIR3910-2	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1492682	chr9:94396059-94396060	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576378253	chr9:94396068-94396069	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs117526615	chr9:94396113-94396114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1492683	chr9:94396124-94396125	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7855529	chr9:94396138-94396139	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185467857	chr9:94396149-94396150	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534723395	chr9:94396156-94396157	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552943372	chr9:94396157-94396158	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543059934	chr9:94396299-94396300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190274946	chr9:94396309-94396310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151064995	chr9:94396315-94396316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557556072	chr9:94396363-94396364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7852614	chr9:94396366-94396367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72744411	chr9:94396367-94396368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375895339	chr9:94396374-94396375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540011348	chr9:94396387-94396388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558519756	chr9:94396404-94396405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113366928	chr9:94396426-94396427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139129111	chr9:94396458-94396459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541067875	chr9:94396483-94396484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9696915	chr9:94396484-94396485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182521833	chr9:94396492-94396493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541531966	chr9:94396494-94396495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74893506	chr9:94396499-94396500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10992021	chr9:94396561-94396562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115942273	chr9:94396583-94396584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564084107	chr9:94396593-94396594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116856620	chr9:94396603-94396604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560675040	chr9:94396641-94396642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546596793	chr9:94396656-94396657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369006202	chr9:94396663-94396664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568065209	chr9:94396673-94396674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187752022	chr9:94396675-94396676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10992022	chr9:94396676-94396677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs190833989	chr9:94396710-94396711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571482527	chr9:94396713-94396714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368015467	chr9:94396737-94396738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539692603	chr9:94396745-94396746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558374371	chr9:94396772-94396773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573590211	chr9:94396775-94396776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371837410	chr9:94396861-94396862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58483310	chr9:94396881-94396882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553025928	chr9:94396893-94396894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62565052	chr9:94396934-94396935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541794199	chr9:94396945-94396946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62565053	chr9:94396981-94396982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574217962	chr9:94397206-94397207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536720852	chr9:94397209-94397210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373294800	chr9:94397210-94397211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs71362345	chr9:94397211-94397212	Inactive region	TF binding region	1 gene(s)	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94395600-94397000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:94403800-94404000	ZNF genes & repeats	Gastric	stomach
3	chr9:94403800-94405000	ZNF genes & repeats	Aorta	Aorta
4	chr9:94403800-94406000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr9:94404000-94404200	Weak transcription	Gastric	stomach
6	chr9:94404800-94405400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:94405000-94406000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:94405200-94406600	Enhancers	Fetal Stomach	stomach
9	chr9:94405200-94406600	Enhancers	GM12878-XiMat	blood
10	chr9:94405400-94405800	Enhancers	Fetal Muscle Leg	muscle
11	chr9:94405400-94406000	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:94405400-94406000	Enhancers	Fetal Muscle Trunk	muscle
13	chr9:94405400-94406400	Enhancers	Stomach Smooth Muscle	stomach
14	chr9:94405600-94406000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:94405600-94406000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:94405600-94406000	Enhancers	Pancreas	Pancrea
17	chr9:94405800-94406600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:94406000-94406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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