Variant report

Variant	nsv615040
Chromosome Location	chr9:105815315-105846496
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	chr9:105816725-105816945	HepG2	liver:	n/a	chr9:105816802-105816815 chr9:105816804-105816815 chr9:105816802-105816815 chr9:105816802-105816813 chr9:105816804-105816815
2	CEBPB	chr9:105831139-105831163	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr9:105841020-105841170	HRE	kidney:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
4	CTCF	chr9:105840980-105841130	HRE	kidney:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
5	CTCF	chr9:105841000-105841150	HMF	breast:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
6	CTCF	chr9:105840920-105841070	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:105840980-105841130	HepG2	liver:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
8	CTCF	chr9:105840898-105841178	GM12878	blood:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
9	CTCF	chr9:105841000-105841150	HEEpiC	esophagus:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
10	CTCF	chr9:105840980-105841130	HRPEpiC	eye:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
11	CTCF	chr9:105840980-105841130	HPAF	blood vessel:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
12	CTCF	chr9:105829780-105829785	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr9:105840990-105841115	LNCaP	prostate:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
14	CTCF	chr9:105840940-105841090	BE2_C	brain:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
15	CTCF	chr9:105840880-105841030	BE2_C	brain:	n/a	n/a
16	CTCF	chr9:105840988-105841121	SK-N-SH_RA	brain:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
17	CTCF	chr9:105840989-105841109	SK-N-SH_RA	brain:	n/a	chr9:105841057-105841078 chr9:105841055-105841073
18	FOS	chr9:105829748-105830046	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr9:105816676-105816882	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr9:105830975-105831301	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr9:105830964-105831308	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:105829759-105830035	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:105816673-105816813	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:105831005-105831314	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr9:105829833-105829966	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr9:105831002-105831321	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr9:105829725-105830047	MCF10A-Er-Src	breast:	n/a	n/a
28	GATA2	chr9:105831116-105831483	SH-SY5Y	brain:	n/a	n/a
29	GATA2	chr9:105844719-105845560	SH-SY5Y	brain:	n/a	chr9:105845005-105845015 chr9:105845482-105845498 chr9:105845005-105845014 chr9:105845000-105845021 chr9:105845002-105845018 chr9:105845480-105845501
30	GATA3	chr9:105834230-105834520	SH-SY5Y	brain:	n/a	chr9:105834480-105834489 chr9:105834346-105834367
31	GATA3	chr9:105844764-105845296	MCF-7	breast:	n/a	chr9:105845005-105845015 chr9:105845006-105845014 chr9:105845005-105845014 chr9:105845000-105845021 chr9:105845002-105845018
32	GATA3	chr9:105842802-105842981	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr9:105844107-105844371	SH-SY5Y	brain:	n/a	chr9:105844332-105844348 chr9:105844330-105844351
34	GATA3	chr9:105831098-105831587	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr9:105844615-105845427	SH-SY5Y	brain:	n/a	chr9:105845005-105845015 chr9:105845006-105845014 chr9:105845005-105845014 chr9:105845000-105845021 chr9:105844665-105844676 chr9:105845002-105845018
36	GATA3	chr9:105844641-105845154	MCF-7	breast:	n/a	chr9:105845005-105845015 chr9:105845006-105845014 chr9:105845005-105845014 chr9:105845000-105845021 chr9:105844665-105844676 chr9:105845002-105845018
37	MAFF	chr9:105816930-105817122	K562	blood:	n/a	chr9:105816972-105816990
38	MAFF	chr9:105816897-105817149	HepG2	liver:	n/a	chr9:105816972-105816990
39	MAFK	chr9:105816870-105817023	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFK	chr9:105828434-105828522	HepG2	liver:	n/a	n/a
41	MAFK	chr9:105816839-105817205	HepG2	liver:	n/a	n/a
42	MAFK	chr9:105816841-105817164	HepG2	liver:	n/a	n/a
43	MAZ	chr9:105819834-105820011	HepG2	liver:	n/a	n/a
44	MYC	chr9:105831021-105831301	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr9:105831101-105831319	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr9:105845520-105845686	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr9:105828319-105828519	GM12878	blood:	n/a	n/a
48	POLR2A	chr9:105826500-105826509	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:105837899-105838011	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr9:105829655-105829740	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27862961..27863907-chr9:105815485..105816300,2	K562	blood:

Variant related genes	Relation type
ENSG00000229830	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78677326	chr9:105824603-105824604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28712685	chr9:105824640-105824641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545726475	chr9:105824661-105824662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138947881	chr9:105824669-105824670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202127448	chr9:105824736-105824737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551759851	chr9:105824738-105824739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115448393	chr9:105824754-105824755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547899316	chr9:105824761-105824762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567773620	chr9:105824766-105824767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529884092	chr9:105824779-105824780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550001993	chr9:105824793-105824794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs843190	chr9:105824863-105824864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182614195	chr9:105824879-105824880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558857830	chr9:105824902-105824903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34150680	chr9:105824929-105824930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143265424	chr9:105824949-105824950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10990490	chr9:105824966-105824967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548018324	chr9:105825105-105825106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556695198	chr9:105825110-105825111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554216619	chr9:105825152-105825153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574198803	chr9:105825153-105825154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542772631	chr9:105825184-105825185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556472024	chr9:105825209-105825210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1584415	chr9:105825222-105825223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs545356743	chr9:105825224-105825225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565608565	chr9:105825249-105825250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137946249	chr9:105825270-105825271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541456851	chr9:105825274-105825275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561317467	chr9:105825318-105825319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530225002	chr9:105825355-105825356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535933708	chr9:105825387-105825388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550336466	chr9:105825396-105825397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143402392	chr9:105825436-105825437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112167053	chr9:105825463-105825464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552171444	chr9:105825489-105825490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554352676	chr9:105825538-105825539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567812953	chr9:105825562-105825563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370198273	chr9:105825581-105825582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148630507	chr9:105825615-105825616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554153519	chr9:105825636-105825637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79182997	chr9:105825658-105825659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536748531	chr9:105825660-105825661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557049396	chr9:105825679-105825680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186139930	chr9:105825724-105825725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190983681	chr9:105825725-105825726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558955130	chr9:105825764-105825765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546021166	chr9:105826320-105826321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541501273	chr9:105837033-105837034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144706530	chr9:105837065-105837066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138430366	chr9:105837066-105837067	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105824600-105825800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:105837000-105837400	Enhancers	Brain Germinal Matrix	brain

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