Variant report

Variant	nsv1025747
Chromosome Location	chr7:15017847-15045637
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	BACH1	chr7:15035586-15035785	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:15040679-15040860	HepG2	liver:	n/a	chr7:15040775-15040786 chr7:15040775-15040788
3	CTCF	chr7:15035520-15035670	BE2_C	brain:	n/a	n/a
4	CTCF	chr7:15028940-15029090	BE2_C	brain:	n/a	n/a
5	CTCF	chr7:15043609-15043665	GM10248	blood:	n/a	n/a
6	CTCF	chr7:15028920-15029070	BE2_C	brain:	n/a	n/a
7	CTCF	chr7:15028840-15028990	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr7:15028360-15028510	HRE	kidney:	n/a	n/a
9	EP300	chr7:15028526-15028996	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr7:15028582-15029024	SK-N-SH_RA	brain:	n/a	n/a
11	FOS	chr7:15039337-15039650	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr7:15039363-15039668	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr7:15039103-15039642	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:15018279-15018900	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr7:15039079-15039147	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr7:15039796-15040146	HepG2	liver:	n/a	n/a
17	FOXA1	chr7:15039863-15040138	HepG2	liver:	n/a	n/a
18	FOXA2	chr7:15039841-15040138	HepG2	liver:	n/a	n/a
19	GATA2	chr7:15028382-15029187	SH-SY5Y	brain:	n/a	n/a
20	GATA2	chr7:15018249-15018778	HUVEC	blood vessel:	n/a	chr7:15018550-15018561
21	GATA3	chr7:15031449-15031468	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr7:15028861-15028862	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr7:15028517-15029125	SK-N-SH	brain:	n/a	n/a
24	HNF4A	chr7:15039845-15040126	HepG2	liver:	n/a	n/a
25	JUN	chr7:15037860-15037904	HepG2	liver:	n/a	chr7:15037870-15037883 chr7:15037874-15037883
26	JUND	chr7:15037783-15037958	HepG2	liver:	n/a	chr7:15037874-15037883
27	JUND	chr7:15020570-15020733	HepG2	liver:	n/a	n/a
28	JUND	chr7:15039527-15039765	HepG2	liver:	n/a	n/a
29	MAFF	chr7:15045323-15045668	HepG2	liver:	n/a	n/a
30	MAFF	chr7:15035490-15035824	HepG2	liver:	n/a	chr7:15035638-15035656
31	MAFF	chr7:15045375-15045605	K562	blood:	n/a	n/a
32	MAFK	chr7:15045315-15045644	HepG2	liver:	n/a	chr7:15045498-15045509 chr7:15045498-15045509 chr7:15045489-15045506
33	MAFK	chr7:15045314-15045683	HepG2	liver:	n/a	chr7:15045498-15045509 chr7:15045498-15045509 chr7:15045489-15045506
34	MAFK	chr7:15035500-15035833	IMR90	lung:	n/a	n/a
35	MAFK	chr7:15032322-15032554	HepG2	liver:	n/a	n/a
36	MAFK	chr7:15035494-15035815	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr7:15035502-15035801	HepG2	liver:	n/a	n/a
38	MAFK	chr7:15045313-15045680	IMR90	lung:	n/a	chr7:15045498-15045509 chr7:15045498-15045509 chr7:15045489-15045506
39	MAFK	chr7:15024172-15024238	HepG2	liver:	n/a	chr7:15024206-15024221
40	MAFK	chr7:15029497-15029686	HepG2	liver:	n/a	n/a
41	MAX	chr7:15039029-15039855	NB4	blood:	n/a	chr7:15039291-15039301
42	MAZ	chr7:15039244-15039341	Hela-S3	cervix:	n/a	n/a
43	MYC	chr7:15038851-15039362	NB4	blood:	n/a	chr7:15039291-15039301
44	POLR2A	chr7:15035985-15036008	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:15040332-15040580	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:15028583-15028959	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr7:15034394-15034594	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:15044396-15044497	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr7:15032948-15032968	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:15020095-15020133	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:15033798..15035958-chr7:15043965..15046706,2	K562	blood:
2	chr7:15033798..15035958-chr7:15043965..15046706,2	K562	blood:
3	chr7:15003480..15005257-chr7:15044429..15047091,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DGKB-1	chr7:15025003-15025699	NONHSAT119271

Variant related genes	Relation type
ENSG00000225816	TF binding region
DGKB	TF binding region

Extended variants
information (count: 244 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542142490	chr7:15017848-15017849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561891963	chr7:15017939-15017940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527466972	chr7:15017980-15017981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547530107	chr7:15017984-15017985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142212305	chr7:15018028-15018029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373787233	chr7:15018033-15018034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532942417	chr7:15018068-15018069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377485145	chr7:15018104-15018105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187593448	chr7:15018106-15018107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113892815	chr7:15018148-15018149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569620924	chr7:15018157-15018158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139512273	chr7:15018190-15018191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190774582	chr7:15018193-15018194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79117923	chr7:15018200-15018201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76163175	chr7:15018246-15018247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534101101	chr7:15018248-15018249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537012363	chr7:15018253-15018254	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73290630	chr7:15018266-15018267	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181056785	chr7:15018272-15018273	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73060878	chr7:15018293-15018294	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113475290	chr7:15018300-15018301	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542179149	chr7:15018302-15018303	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186194015	chr7:15018308-15018309	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190257817	chr7:15018322-15018323	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs191953872	chr7:15018338-15018339	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556363485	chr7:15018349-15018350	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556993945	chr7:15018371-15018372	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532922815	chr7:15018447-15018448	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144176802	chr7:15018448-15018449	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562980636	chr7:15018476-15018477	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375534800	chr7:15018487-15018488	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112542529	chr7:15018512-15018513	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546114170	chr7:15018547-15018548	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs548495474	chr7:15018550-15018551	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs368218651	chr7:15018565-15018566	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574566178	chr7:15018577-15018578	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs146550057	chr7:15018607-15018608	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569879040	chr7:15018694-15018695	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527890484	chr7:15018757-15018758	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs575276296	chr7:15018768-15018769	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs77560672	chr7:15018778-15018779	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs58555005	chr7:15018789-15018790	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs58257515	chr7:15018790-15018791	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539578502	chr7:15018794-15018795	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs556603382	chr7:15018815-15018816	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs75286542	chr7:15018837-15018838	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62448586	chr7:15018855-15018856	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555638114	chr7:15018857-15018858	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112661086	chr7:15018914-15018915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112334886	chr7:15018933-15018934	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15017600-15019800	Enhancers	HUVEC	blood vessel
2	chr7:15039000-15040600	Enhancers	Liver	Liver
3	chr7:15039600-15040000	Enhancers	HepG2	liver

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