Variant report

Variant	nsv888046
Chromosome Location	chr7:53613811-53661764
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	chr7:53627146-53627467	HepG2	liver:	n/a	chr7:53627303-53627316 chr7:53627304-53627315
2	CEBPB	chr7:53627192-53627409	A549	lung:	n/a	chr7:53627303-53627316 chr7:53627304-53627315
3	CEBPB	chr7:53657616-53657956	IMR90	lung:	n/a	chr7:53657791-53657802 chr7:53657625-53657637
4	CEBPB	chr7:53657625-53657963	A549	lung:	n/a	chr7:53657791-53657802 chr7:53657625-53657637
5	CEBPB	chr7:53656513-53656745	HepG2	liver:	n/a	chr7:53656591-53656602 chr7:53656692-53656703
6	CEBPB	chr7:53657637-53657940	Hela-S3	cervix:	n/a	chr7:53657791-53657802
7	CEBPB	chr7:53657653-53657938	H1-hESC	embryonic stem cell:	n/a	chr7:53657791-53657802
8	CEBPB	chr7:53657619-53657966	HepG2	liver:	n/a	chr7:53657791-53657802 chr7:53657625-53657637
9	CEBPB	chr7:53657663-53657887	MCF-7	breast:	n/a	chr7:53657791-53657802
10	CEBPB	chr7:53657565-53657960	K562	blood:	n/a	chr7:53657791-53657802 chr7:53657625-53657637
11	CTCF	chr7:53643580-53643687	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr7:53615348-53615365	GM20000	blood:	n/a	n/a
13	CTCF	chr7:53615440-53615590	HMEC	breast:	n/a	n/a
14	CTCF	chr7:53659160-53659310	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:53658520-53658670	HEK293	kidney:	n/a	n/a
16	CTCF	chr7:53615480-53615630	HMEC	breast:	n/a	n/a
17	CTCF	chr7:53661457-53661478	LNCaP	prostate:	n/a	n/a
18	E2F4	chr7:53625182-53625470	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr7:53647990-53648199	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr7:53642474-53642691	GM12878	blood:	n/a	n/a
21	EP300	chr7:53617587-53617607	GM12878	blood:	n/a	n/a
22	FOXA1	chr7:53655401-53655610	T-47D	breast:	n/a	n/a
23	GATA2	chr7:53622309-53622592	SH-SY5Y	brain:	n/a	chr7:53622422-53622431
24	GATA3	chr7:53621680-53621718	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:53625577-53625777	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr7:53615668-53615865	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr7:53622162-53622671	SH-SY5Y	brain:	n/a	chr7:53622422-53622431
28	JUN	chr7:53619936-53620126	K562	blood:	n/a	n/a
29	JUN	chr7:53623505-53623629	HepG2	liver:	n/a	chr7:53623539-53623552
30	JUN	chr7:53659202-53659402	HepG2	liver:	n/a	chr7:53659338-53659347 chr7:53659270-53659279 chr7:53659266-53659279
31	JUND	chr7:53659162-53659384	HepG2	liver:	n/a	chr7:53659338-53659347 chr7:53659270-53659279
32	JUND	chr7:53623473-53623587	HepG2	liver:	n/a	n/a
33	MAFF	chr7:53648413-53648609	HepG2	liver:	n/a	n/a
34	MAFF	chr7:53653523-53653630	HepG2	liver:	n/a	n/a
35	MAFK	chr7:53653456-53653554	HepG2	liver:	n/a	n/a
36	MAFK	chr7:53648427-53648610	K562	blood:	n/a	n/a
37	MAFK	chr7:53653507-53653647	HepG2	liver:	n/a	chr7:53653545-53653565 chr7:53653548-53653562
38	MAFK	chr7:53661740-53662008	HepG2	liver:	n/a	chr7:53661888-53661904
39	MAFK	chr7:53648421-53648636	IMR90	lung:	n/a	n/a
40	MAFK	chr7:53661722-53662090	HepG2	liver:	n/a	chr7:53661888-53661904
41	MAFK	chr7:53640748-53640930	HepG2	liver:	n/a	n/a
42	MAFK	chr7:53648369-53648639	HepG2	liver:	n/a	n/a
43	MAFK	chr7:53661751-53662039	IMR90	lung:	n/a	chr7:53661888-53661904
44	MAZ	chr7:53655477-53655497	HepG2	liver:	n/a	n/a
45	MAZ	chr7:53619740-53619837	HepG2	liver:	n/a	chr7:53619748-53619756
46	MAZ	chr7:53645534-53645580	HepG2	liver:	n/a	n/a
47	MYC	chr7:53614285-53614391	K562	blood:	n/a	n/a
48	MYC	chr7:53619992-53620273	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr7:53628872-53628988	MCF10A-Er-Src	breast:	n/a	n/a
50	NR3C1	chr7:53655702-53655865	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC61G-5	chr7:53626907-53627111	XLOC_006446
2	lnc-SEC61G-5	chr7:53635845-53635942	XLOC_006446
3	lnc-SEC61G-5	chr7:53632229-53632362	XLOC_006446

Variant related genes	Relation type
ENSG00000228627	TF binding region

Extended variants
information (count: 387 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143752375	chr7:53625626-53625627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527666483	chr7:53625649-53625650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6956952	chr7:53625656-53625657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189708203	chr7:53625657-53625658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77634353	chr7:53625688-53625689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75076892	chr7:53625711-53625712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368635397	chr7:53625735-53625736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534007043	chr7:53625739-53625740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550013844	chr7:53625747-53625748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568590904	chr7:53625764-53625765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73374985	chr7:53625835-53625836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548059186	chr7:53625863-53625864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566409768	chr7:53625872-53625873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6943954	chr7:53625890-53625891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs369209292	chr7:53625901-53625902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537504089	chr7:53625911-53625912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75211345	chr7:53625961-53625962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79899265	chr7:53626911-53626912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs146941769	chr7:53626919-53626920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs537541785	chr7:53626920-53626921	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs562190422	chr7:53626931-53626932	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529341015	chr7:53626934-53626935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs73374991	chr7:53626935-53626936	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191196285	chr7:53626987-53626988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs183557682	chr7:53626988-53626989	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs188443993	chr7:53627023-53627024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs28678454	chr7:53627058-53627059	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116202380	chr7:53627060-53627061	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs138011195	chr7:53627081-53627082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs184900302	chr7:53627092-53627093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs567902651	chr7:53632241-53632242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs376141923	chr7:53632248-53632249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs115766088	chr7:53632264-53632265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs186143273	chr7:53632297-53632298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs190762468	chr7:53632302-53632303	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs138824929	chr7:53632305-53632306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs183780079	chr7:53632306-53632307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201060150	chr7:53632341-53632342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs189252671	chr7:53632343-53632344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs144705050	chr7:53635881-53635882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs6943826	chr7:53640749-53640750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181909042	chr7:53640767-53640768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs116446901	chr7:53640780-53640781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs143204331	chr7:53640785-53640786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs147510687	chr7:53640802-53640803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552946892	chr7:53640849-53640850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552177789	chr7:53640857-53640858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs372084734	chr7:53640860-53640861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577622836	chr7:53640867-53640868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545124764	chr7:53640881-53640882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cognitive impairment	21505072	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53625600-53626000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr7:53625600-53626000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:53641600-53642400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:53655000-53655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:53655600-53671400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:53661600-53663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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