Variant report

Variant	nsv1028049
Chromosome Location	chr7:53218611-53250544
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	chr7:53233835-53234042	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr7:53224940-53225137	GM12878	blood:	n/a	n/a
3	BATF	chr7:53222915-53223110	GM12878	blood:	n/a	n/a
4	BATF	chr7:53222928-53223116	GM12878	blood:	n/a	n/a
5	BATF	chr7:53221229-53221402	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:53225473-53225789	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:53222919-53223087	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:53224929-53225120	GM12878	blood:	n/a	n/a
9	BHLHE40	chr7:53221742-53221948	HepG2	liver:	n/a	n/a
10	BHLHE40	chr7:53223246-53223532	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:53231745-53231851	H1-hESC	embryonic stem cell:	n/a	chr7:53231795-53231808 chr7:53231797-53231806 chr7:53231795-53231808 chr7:53231796-53231807 chr7:53231795-53231806 chr7:53231795-53231808 chr7:53231797-53231806 chr7:53231797-53231806 chr7:53231797-53231806 chr7:53231795-53231806
12	CEBPB	chr7:53231685-53231960	HepG2	liver:	n/a	chr7:53231795-53231808 chr7:53231797-53231806 chr7:53231795-53231808 chr7:53231796-53231807 chr7:53231795-53231806 chr7:53231795-53231808 chr7:53231797-53231806 chr7:53231797-53231806 chr7:53231797-53231806 chr7:53231795-53231806
13	CEBPB	chr7:53231661-53231887	IMR90	lung:	n/a	chr7:53231795-53231808 chr7:53231797-53231806 chr7:53231795-53231808 chr7:53231796-53231807 chr7:53231795-53231806 chr7:53231795-53231808 chr7:53231797-53231806 chr7:53231797-53231806 chr7:53231797-53231806 chr7:53231795-53231806
14	CTCF	chr7:53248307-53248360	GM13976	blood:	n/a	n/a
15	E2F4	chr7:53235794-53235994	MCF10A-Er-Src	breast:	n/a	n/a
16	EBF1	chr7:53232414-53232752	GM12878	blood:	n/a	n/a
17	EBF1	chr7:53220937-53221155	GM12878	blood:	n/a	n/a
18	EBF1	chr7:53223408-53223600	GM12878	blood:	n/a	n/a
19	EBF1	chr7:53222856-53223167	GM12878	blood:	n/a	n/a
20	EBF1	chr7:53221221-53221431	GM12878	blood:	n/a	n/a
21	EBF1	chr7:53224898-53225118	GM12878	blood:	n/a	n/a
22	EP300	chr7:53222823-53223245	GM12878	blood:	n/a	chr7:53222969-53222978 chr7:53222968-53222982
23	EP300	chr7:53232519-53232650	GM12878	blood:	n/a	n/a
24	EP300	chr7:53232413-53232671	GM12878	blood:	n/a	n/a
25	EP300	chr7:53221233-53221388	GM12878	blood:	n/a	n/a
26	EP300	chr7:53222932-53223117	GM12878	blood:	n/a	chr7:53222969-53222978 chr7:53222968-53222982
27	FOSL2	chr7:53229841-53230174	HepG2	liver:	n/a	chr7:53230129-53230143
28	FOSL2	chr7:53224915-53225164	HepG2	liver:	n/a	n/a
29	FOSL2	chr7:53222872-53223096	HepG2	liver:	n/a	n/a
30	FOSL2	chr7:53219794-53220019	HepG2	liver:	n/a	n/a
31	FOSL2	chr7:53222841-53223596	HepG2	liver:	n/a	n/a
32	GABPA	chr7:53222918-53223134	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr7:53221211-53221406	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr7:53222911-53223173	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr7:53224957-53225079	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr7:53237588-53237737	Hela-S3	cervix:	n/a	n/a
37	GABPA	chr7:53220206-53220376	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr7:53230373-53230620	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr7:53232415-53232646	Hela-S3	cervix:	n/a	n/a
40	GATA1	chr7:53224647-53224950	PBDEFetal	blood:	n/a	n/a
41	GATA3	chr7:53241422-53241510	SH-SY5Y	brain:	n/a	n/a
42	IRF4	chr7:53229978-53230261	GM12878	blood:	n/a	n/a
43	IRF4	chr7:53222910-53223252	GM12878	blood:	n/a	n/a
44	IRF4	chr7:53232412-53232788	GM12878	blood:	n/a	n/a
45	IRF4	chr7:53222830-53223528	GM12878	blood:	n/a	n/a
46	JUND	chr7:53224951-53225130	HepG2	liver:	n/a	n/a
47	JUND	chr7:53225453-53225710	HepG2	liver:	n/a	n/a
48	JUND	chr7:53219504-53219684	HepG2	liver:	n/a	n/a
49	JUND	chr7:53222851-53223143	HepG2	liver:	n/a	n/a
50	MAFK	chr7:53233896-53234013	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:71468407..71469255-chr7:53248075..53248575,2	HCT-116	colon:
2	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:

Variant related genes	Relation type
HAUS6P1	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543205006	chr7:53220000-53220001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562845027	chr7:53220006-53220007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs60843166	chr7:53220024-53220025	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545022757	chr7:53220041-53220042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564966553	chr7:53220042-53220043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553293751	chr7:53220047-53220048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192200116	chr7:53220068-53220069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7794859	chr7:53220091-53220092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567546575	chr7:53220096-53220097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201918642	chr7:53220101-53220102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529850235	chr7:53220104-53220105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201868444	chr7:53220113-53220114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7794877	chr7:53220128-53220129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113289659	chr7:53220144-53220145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569665061	chr7:53220149-53220150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7795012	chr7:53220181-53220182	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73699920	chr7:53233216-53233217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13312091	chr7:53233218-53233219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13312268	chr7:53233228-53233229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13312307	chr7:53233237-53233238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557213443	chr7:53233254-53233255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13307702	chr7:53233264-53233265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13311758	chr7:53233270-53233271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577014040	chr7:53233278-53233279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13307709	chr7:53233299-53233300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539575914	chr7:53233304-53233305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548982129	chr7:53233310-53233311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13222833	chr7:53233315-53233316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13311769	chr7:53233316-53233317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541500629	chr7:53233354-53233355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138418790	chr7:53233362-53233363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13311807	chr7:53233377-53233378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199997163	chr7:53233411-53233412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185077369	chr7:53233435-53233436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113129156	chr7:53233447-53233448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113562878	chr7:53233453-53233454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113467768	chr7:53233457-53233458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113270999	chr7:53233467-53233468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531525698	chr7:53233478-53233479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113972675	chr7:53233482-53233483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112022346	chr7:53233501-53233502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79345933	chr7:53233554-53233555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568509435	chr7:53233806-53233807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs538759405	chr7:53233817-53233818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs202220087	chr7:53233842-53233843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147436954	chr7:53233847-53233848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140171462	chr7:53233848-53233849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs57739382	chr7:53233849-53233850	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs545709623	chr7:53233863-53233864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547384101	chr7:53233869-53233870	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53220000-53220200	ZNF genes & repeats	Gastric	stomach
2	chr7:53233200-53233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:53233800-53234400	Active TSS	A549	lung
4	chr7:53236400-53236800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:53236600-53237000	Enhancers	HUES48 Cell Line	embryonic stem cell

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