Variant report

Variant	nsv888038
Chromosome Location	chr7:53190508-53250378
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	chr7:53222928-53223116	GM12878	blood:	n/a	n/a
4	BATF	chr7:53222915-53223110	GM12878	blood:	n/a	n/a
5	BATF	chr7:53221229-53221402	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:53224929-53225120	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:53222919-53223087	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:53225473-53225789	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	chr7:53207990-53208229	HepG2	liver:	n/a	chr7:53208124-53208135 chr7:53208110-53208123
12	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
13	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
14	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
15	CTCF	chr7:53204411-53204478	GM10248	blood:	n/a	n/a
16	CTCF	chr7:53213251-53213293	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr7:53190685-53190714	GM10266	blood:	n/a	n/a
18	CTCF	chr7:53210189-53210253	Medullo	brain:	n/a	n/a
19	CTCF	chr7:53215680-53215830	NHEK	skin:	n/a	n/a
20	CTCF	chr7:53248307-53248360	GM13976	blood:	n/a	n/a
21	CTCF	chr7:53194527-53194627	Lung_OC	lung:	n/a	n/a
22	E2F4	chr7:53235794-53235994	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr7:53224898-53225118	GM12878	blood:	n/a	n/a
24	EBF1	chr7:53221221-53221431	GM12878	blood:	n/a	n/a
25	EBF1	chr7:53223408-53223600	GM12878	blood:	n/a	n/a
26	EBF1	chr7:53232414-53232752	GM12878	blood:	n/a	n/a
27	EBF1	chr7:53222856-53223167	GM12878	blood:	n/a	n/a
28	EBF1	chr7:53220937-53221155	GM12878	blood:	n/a	n/a
29	EP300	chr7:53194629-53194876	GM12878	blood:	n/a	n/a
30	EP300	chr7:53232413-53232671	GM12878	blood:	n/a	n/a
31	EP300	chr7:53221233-53221388	GM12878	blood:	n/a	n/a
32	EP300	chr7:53222823-53223245	GM12878	blood:	n/a	chr7:53222969-53222978 chr7:53222968-53222982
33	EP300	chr7:53222932-53223117	GM12878	blood:	n/a	chr7:53222969-53222978 chr7:53222968-53222982
34	EP300	chr7:53232519-53232650	GM12878	blood:	n/a	n/a
35	ESR1	chr7:53207436-53207686	T-47D	breast:	n/a	n/a
36	FOSL2	chr7:53222841-53223596	HepG2	liver:	n/a	n/a
37	FOSL2	chr7:53219794-53220019	HepG2	liver:	n/a	n/a
38	FOSL2	chr7:53229841-53230174	HepG2	liver:	n/a	chr7:53230129-53230143
39	FOSL2	chr7:53194640-53194813	HepG2	liver:	n/a	n/a
40	FOSL2	chr7:53222872-53223096	HepG2	liver:	n/a	n/a
41	FOSL2	chr7:53224915-53225164	HepG2	liver:	n/a	n/a
42	FOXA1	chr7:53207373-53207684	T-47D	breast:	n/a	n/a
43	FOXA1	chr7:53207371-53207677	T-47D	breast:	n/a	n/a
44	GABPA	chr7:53232415-53232646	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr7:53237588-53237737	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr7:53220206-53220376	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr7:53224957-53225079	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr7:53222918-53223134	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr7:53222911-53223173	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr7:53230373-53230620	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:53190606-53190656	NB4	blood:	n/a
2	chr7:53190606-53190656	NB4	blood:	n/a
3	chr7:53190606-53190656	BJ	skin:	n/a
4	chr7:53190606-53190656	AG04449	skin:	fetal
5	chr7:53190606-53190656	GM12878	blood:	n/a
6	chr7:53190606-53190656	T-47D	breast:	n/a
7	chr7:53190606-53190656	NH-A	brain:	n/a
8	chr7:53190606-53190656	GM12891	blood:	n/a
9	chr7:53190606-53190656	AG09309	skin:	n/a
10	chr7:53190606-53190656	AG04450	lung:	fetal
11	chr7:53190606-53190656	ovcar-3	ovarian:	n/a
12	chr7:53190606-53190656	HEK293	kidney:	embryo
13	chr7:53190606-53190656	MCF-7	breast:	n/a
14	chr7:53190606-53190656	PANC-1	pancreas:	n/a
15	chr7:53190606-53190656	LNCaP	prostate:	n/a
16	chr7:53190606-53190656	SK-N-SH_RA	brain:	n/a
17	chr7:53190606-53190656	Jurkat	blood:	n/a
18	chr7:53190606-53190656	K562	blood:	n/a
19	chr7:53190606-53190656	A549	lung:	n/a
20	chr7:53190606-53190656	HAEpiC	amniotic membrane:	n/a
21	chr7:53190606-53190656	CMK	blood:	n/a
22	chr7:53190606-53190656	ECC-1	luminal epithelium:	n/a
23	chr7:53190606-53190656	HCPEpiC	choroid plexus:	n/a
24	chr7:53190606-53190656	HCM	heart:	n/a
25	chr7:53190606-53190656	Hela-S3	cervix:	n/a
26	chr7:53190606-53190656	HCT-116	colon:	n/a
27	chr7:53190606-53190656	SK-N-SH	brain:	n/a
28	chr7:53190606-53190656	Caco-2	colon:	n/a
29	chr7:53190606-53190656	SKMC	muscle:	n/a
30	chr7:53190606-53190656	HNPCEpiC	eye:	n/a
31	chr7:53190606-53190656	SK-N-MC	brain:	n/a
32	chr7:53190606-53190656	RPTEC	kidney:	n/a
33	chr7:53190606-53190656	AG10803	skin:	n/a
34	chr7:53190606-53190656	HL-60	blood:	n/a
35	chr7:53190606-53190656	NT2-D1	testis:	n/a
36	chr7:53190606-53190656	GM12892	blood:	n/a
37	chr7:53190606-53190656	MCF10A-Er-Src	breast:	n/a
38	chr7:53190606-53190656	HRPEpiC	eye:	n/a
39	chr7:53190606-53190656	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:53190606-53190656	GM06990	blood:	n/a
41	chr7:53190606-53190656	H1-hESC	embryonic stem cell:	embryo
42	chr7:53190606-53190656	PFSK-1	brain:	n/a
43	chr7:53190606-53190656	GM19239	blood:	n/a
44	chr7:53190606-53190656	HIPEpiC	eye:	n/a
45	chr7:53190606-53190656	Hepatocyte	liver:	n/a
46	chr7:53190606-53190656	AoSMC	blood vessel:	n/a
47	chr7:53190606-53190656	PrEC	prostate:	n/a
48	chr7:53190606-53190656	HCF	heart:	n/a
49	chr7:53190606-53190656	HepG2	liver:	n/a
50	chr7:53190606-53190656	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:71468407..71469255-chr7:53248075..53248575,2	HCT-116	colon:
2	chr17:25277426..25278160-chr7:53200570..53201453,2	MCF-7	breast:
3	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:
4	chr7:53213709..53216589-chr7:53219355..53221202,2	MCF-7	breast:

Variant related genes	Relation type
HAUS6P1	TF binding region
HAUS6P1	CpG island

Extended variants
information (count: 314 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527562045	chr7:53193823-53193824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2140867	chr7:53193836-53193837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369596391	chr7:53193862-53193863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4109907	chr7:53193908-53193909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4109908	chr7:53193914-53193915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529751526	chr7:53193915-53193916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7458046	chr7:53193943-53193944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144227124	chr7:53193958-53193959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62452963	chr7:53193971-53193972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532042463	chr7:53193978-53193979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62452964	chr7:53193979-53193980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200240082	chr7:53193996-53193997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571891307	chr7:53194006-53194007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534484674	chr7:53194061-53194062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2204471	chr7:53194068-53194069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7455322	chr7:53194106-53194107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62452965	chr7:53194119-53194120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62452966	chr7:53194149-53194150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567812784	chr7:53194162-53194163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556951597	chr7:53194191-53194192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536765032	chr7:53194208-53194209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2140868	chr7:53194217-53194218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200285100	chr7:53194231-53194232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576466640	chr7:53194245-53194246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189979480	chr7:53194262-53194263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558908747	chr7:53194275-53194276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2140869	chr7:53194298-53194299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540887572	chr7:53194370-53194371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560754290	chr7:53194388-53194389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73113458	chr7:53202015-53202016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79905519	chr7:53202042-53202043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184010505	chr7:53202048-53202049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6978941	chr7:53202086-53202087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75781531	chr7:53202087-53202088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568909733	chr7:53202091-53202092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59706770	chr7:53202092-53202093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537485790	chr7:53202127-53202128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187935093	chr7:53202128-53202129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6958400	chr7:53202141-53202142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189618768	chr7:53202144-53202145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573329128	chr7:53202161-53202162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542388295	chr7:53202180-53202181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73355686	chr7:53202191-53202192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191167940	chr7:53202207-53202208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200728177	chr7:53202210-53202211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11760294	chr7:53202282-53202283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182303968	chr7:53202283-53202284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564425942	chr7:53202302-53202303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186911805	chr7:53202307-53202308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113674488	chr7:53202320-53202321	Weak transcription	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53193800-53194400	Enhancers	Ovary	ovary
2	chr7:53202000-53202200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:53202200-53203400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:53203400-53203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:53214000-53214400	Enhancers	Brain Germinal Matrix	brain
6	chr7:53214000-53215400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:53214200-53214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:53220000-53220200	ZNF genes & repeats	Gastric	stomach
9	chr7:53233200-53233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:53233800-53234400	Active TSS	A549	lung
11	chr7:53236400-53236800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:53236600-53237000	Enhancers	HUES48 Cell Line	embryonic stem cell

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