Variant report

Variant	nsv603634
Chromosome Location	chr6:70007450-70060225
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	BATF	chr6:70050163-70050328	GM12878	blood:	n/a	chr6:70050243-70050254
2	CEBPB	chr6:70016729-70016963	A549	lung:	n/a	n/a
3	CEBPB	chr6:70048383-70048700	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:70020128-70020328	K562	blood:	n/a	chr6:70020252-70020261 chr6:70020250-70020261 chr6:70020251-70020262
5	CEBPB	chr6:70020103-70020381	HepG2	liver:	n/a	chr6:70020252-70020261 chr6:70020250-70020261 chr6:70020251-70020262
6	CTCF	chr6:70035732-70035838	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr6:70021926-70022029	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:70021927-70022056	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:70021913-70022115	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:70021900-70022050	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr6:70021935-70022046	ProgFib	skin:	n/a	n/a
12	CTCF	chr6:70021908-70022048	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:70021920-70022057	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:70021940-70022090	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr6:70022060-70022210	BE2_C	brain:	n/a	n/a
16	CTCF	chr6:70021900-70022050	HEK293	kidney:	n/a	n/a
17	CTCF	chr6:70021860-70022010	Caco-2	colon:	n/a	n/a
18	CTCF	chr6:70021941-70022069	LNCaP	prostate:	n/a	n/a
19	CTCF	chr6:70021880-70022030	BE2_C	brain:	n/a	n/a
20	CTCF	chr6:70021920-70022018	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:70021948-70021989	Medullo	brain:	n/a	n/a
22	CTCF	chr6:70021904-70022069	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:70021900-70022050	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr6:70021959-70022014	LNCaP	prostate:	n/a	n/a
25	E2F4	chr6:70048208-70048400	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr6:70045709-70045895	MCF10A-Er-Src	breast:	n/a	n/a
27	ELF1	chr6:70035761-70036089	GM12878	blood:	n/a	n/a
28	FAM48A	chr6:70024992-70025154	GM12878	blood:	n/a	n/a
29	FAM48A	chr6:70032648-70032702	GM12878	blood:	n/a	n/a
30	FAM48A	chr6:70020119-70020268	GM12878	blood:	n/a	n/a
31	FOS	chr6:70028173-70028365	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:70024988-70024997	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:70033991-70034110	MCF10A-Er-Src	breast:	n/a	chr6:70034018-70034027 chr6:70034019-70034028
34	GATA3	chr6:70042602-70043043	MCF-7	breast:	n/a	n/a
35	GATA3	chr6:70047131-70047383	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr6:70012661-70012867	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr6:70033975-70034103	SH-SY5Y	brain:	n/a	chr6:70034032-70034041
38	GATA3	chr6:70011752-70011855	SH-SY5Y	brain:	n/a	n/a
39	JUN	chr6:70043899-70044097	HepG2	liver:	n/a	chr6:70043970-70043983 chr6:70043971-70043980
40	JUND	chr6:70054439-70054674	HepG2	liver:	n/a	chr6:70054572-70054583 chr6:70054573-70054582 chr6:70054574-70054581 chr6:70054574-70054582
41	JUND	chr6:70033954-70034175	HepG2	liver:	n/a	chr6:70034018-70034027 chr6:70034019-70034028 chr6:70034120-70034132 chr6:70034017-70034028
42	JUND	chr6:70043919-70044123	HepG2	liver:	n/a	chr6:70043971-70043980
43	MAFF	chr6:70013293-70013626	K562	blood:	n/a	chr6:70013466-70013484
44	MAFF	chr6:70013293-70013621	HepG2	liver:	n/a	chr6:70013466-70013484
45	MAFK	chr6:70047553-70047742	HepG2	liver:	n/a	chr6:70047605-70047620 chr6:70047655-70047669 chr6:70047652-70047667 chr6:70047657-70047668 chr6:70047657-70047668
46	MAFK	chr6:70057894-70057968	HepG2	liver:	n/a	chr6:70057940-70057954
47	MAFK	chr6:70025420-70025646	HepG2	liver:	n/a	n/a
48	MAFK	chr6:70013329-70013599	K562	blood:	n/a	chr6:70013471-70013482 chr6:70013467-70013482 chr6:70013470-70013484
49	MAFK	chr6:70013323-70013620	IMR90	lung:	n/a	chr6:70013471-70013482 chr6:70013467-70013482 chr6:70013470-70013484
50	MAFK	chr6:70013305-70013646	HepG2	liver:	n/a	chr6:70013471-70013482 chr6:70013467-70013482 chr6:70013470-70013484

No.	Distal block	Cell Line	Cell type
1	chr6:70027800..70030186-chr6:70032590..70035467,2	K562	blood:
2	chr6:69947964..69950395-chr6:70031598..70033125,2	MCF-7	breast:
3	chr6:70023593..70026263-chr6:70039164..70041022,2	K562	blood:
4	chr6:70008651..70011416-chr6:70016627..70019058,2	K562	blood:
5	chr6:70023593..70026263-chr6:70039164..70041022,2	K562	blood:
6	chr6:70008651..70011416-chr6:70016627..70019058,2	K562	blood:
7	chr6:70027800..70030186-chr6:70032590..70035467,2	K562	blood:

Variant related genes	Relation type
BAI3	TF binding region

Extended variants
information (count: 1412 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1412 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3799081	chr6:70007450-70007451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546300007	chr6:70007451-70007452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138518278	chr6:70007466-70007467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572978769	chr6:70007485-70007486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1885331	chr6:70007550-70007551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561637992	chr6:70007566-70007567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530723507	chr6:70007570-70007571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188985271	chr6:70007648-70007649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3799083	chr6:70007678-70007679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532850530	chr6:70007680-70007681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181401695	chr6:70007690-70007691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566471529	chr6:70007754-70007755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528683364	chr6:70007823-70007824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377396523	chr6:70007830-70007831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568732463	chr6:70007839-70007840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545293083	chr6:70007842-70007843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537746304	chr6:70007865-70007866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571977741	chr6:70007918-70007919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148817037	chr6:70007924-70007925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185571032	chr6:70007925-70007926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539484727	chr6:70007956-70007957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369275262	chr6:70007985-70007986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553410952	chr6:70007998-70007999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190728622	chr6:70008013-70008014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181533006	chr6:70008024-70008025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55638103	chr6:70008049-70008050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143455029	chr6:70008056-70008057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538221443	chr6:70008065-70008066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544113086	chr6:70008091-70008092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564255538	chr6:70008247-70008248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532917729	chr6:70008266-70008267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115026911	chr6:70008274-70008275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557041261	chr6:70008325-70008326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75721518	chr6:70008346-70008347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548755700	chr6:70008358-70008359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373473157	chr6:70008411-70008412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186551711	chr6:70008424-70008425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191006819	chr6:70008447-70008448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551281555	chr6:70008471-70008472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571087374	chr6:70008516-70008517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542239574	chr6:70008517-70008518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539809821	chr6:70008521-70008522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548279710	chr6:70008528-70008529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12211243	chr6:70008628-70008629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141683360	chr6:70008647-70008648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377319042	chr6:70008650-70008651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150560912	chr6:70008663-70008664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575077380	chr6:70008684-70008685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138866795	chr6:70008736-70008737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573249680	chr6:70008737-70008738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69994400-70015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:70000000-70007600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:70000200-70009000	Weak transcription	Fetal Brain Male	brain
4	chr6:70003600-70014600	Weak transcription	Brain Angular Gyrus	brain
5	chr6:70020000-70023000	Weak transcription	Fetal Brain Male	brain
6	chr6:70023000-70023400	Enhancers	Fetal Brain Male	brain
7	chr6:70023400-70024400	Weak transcription	Fetal Brain Male	brain
8	chr6:70024600-70024800	Enhancers	Fetal Brain Male	brain
9	chr6:70033200-70053600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:70034600-70039400	Weak transcription	Brain Angular Gyrus	brain
11	chr6:70037200-70037800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:70039200-70039800	Enhancers	Brain Anterior Caudate	brain
13	chr6:70039200-70040000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr6:70039400-70039800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:70039400-70040000	Enhancers	Brain Angular Gyrus	brain
16	chr6:70039400-70040000	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:70039600-70039800	Enhancers	Brain Substantia Nigra	brain
18	chr6:70039600-70040000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:70039600-70040000	Enhancers	Brain Hippocampus Middle	brain
20	chr6:70039800-70041600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:70039800-70042400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:70039800-70054000	Weak transcription	Brain Substantia Nigra	brain
23	chr6:70040000-70042200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:70040000-70053600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:70040000-70053800	Weak transcription	Brain Angular Gyrus	brain
26	chr6:70040000-70054000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:70041600-70043000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:70042200-70042400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:70042200-70042800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:70042400-70042600	Enhancers	Brain Anterior Caudate	brain
31	chr6:70042400-70053600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:70049000-70050200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:70049200-70049600	Enhancers	Fetal Brain Male	brain
34	chr6:70049200-70049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:70049600-70080600	Weak transcription	Fetal Brain Male	brain
36	chr6:70049800-70053400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:70050200-70053600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:70053400-70055200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:70053600-70054200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:70053600-70054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:70053600-70054800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:70053600-70055000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:70053800-70054200	Enhancers	Brain Hippocampus Middle	brain
44	chr6:70053800-70054600	Enhancers	Brain Angular Gyrus	brain
45	chr6:70053800-70054600	Enhancers	Brain Anterior Caudate	brain
46	chr6:70054000-70054200	Enhancers	Brain Substantia Nigra	brain
47	chr6:70054000-70054800	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:70054200-70054600	Weak transcription	Brain Substantia Nigra	brain
49	chr6:70054200-70066000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:70054400-70070800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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