Variant report

Variant	nsv886093
Chromosome Location	chr6:67856976-67913124
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	ATF1	chr6:67894213-67894698	K562	blood:	n/a	n/a
2	BACH1	chr6:67885030-67885201	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr6:67895182-67895225	HepG2	liver:	n/a	n/a
4	CBX3	chr6:67870745-67871050	K562	blood:	n/a	n/a
5	CBX3	chr6:67870690-67871098	K562	blood:	n/a	n/a
6	CEBPB	chr6:67876937-67877237	HepG2	liver:	n/a	chr6:67877056-67877067
7	CEBPB	chr6:67870400-67870606	HepG2	liver:	n/a	chr6:67870454-67870465
8	CEBPB	chr6:67870401-67870473	H1-hESC	embryonic stem cell:	n/a	chr6:67870454-67870465
9	CEBPB	chr6:67886614-67886936	H1-hESC	embryonic stem cell:	n/a	chr6:67886769-67886780
10	CEBPB	chr6:67906474-67906644	K562	blood:	n/a	chr6:67906566-67906579
11	CEBPB	chr6:67870412-67870621	K562	blood:	n/a	chr6:67870454-67870465
12	CEBPB	chr6:67870337-67870600	A549	lung:	n/a	chr6:67870454-67870465
13	CEBPB	chr6:67886602-67886949	HepG2	liver:	n/a	chr6:67886769-67886780
14	CEBPB	chr6:67876996-67877247	IMR90	lung:	n/a	chr6:67877056-67877067
15	CEBPB	chr6:67876297-67876456	HepG2	liver:	n/a	chr6:67876376-67876387 chr6:67876374-67876387 chr6:67876376-67876385
16	CEBPB	chr6:67875457-67875569	K562	blood:	n/a	n/a
17	CEBPB	chr6:67886600-67886965	K562	blood:	n/a	chr6:67886769-67886780
18	CEBPD	chr6:67894118-67894750	K562	blood:	n/a	n/a
19	CEBPD	chr6:67894254-67894724	K562	blood:	n/a	n/a
20	CTCF	chr6:67907920-67907948	GM10248	blood:	n/a	n/a
21	CTCF	chr6:67879160-67879310	NHDF-neo	bronchial:	n/a	n/a
22	EP300	chr6:67900733-67900894	GM12878	blood:	n/a	chr6:67900849-67900858 chr6:67900842-67900856 chr6:67900848-67900862
23	EP300	chr6:67894287-67894671	K562	blood:	n/a	chr6:67894425-67894434 chr6:67894424-67894438
24	FOS	chr6:67869569-67869769	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:67869569-67869800	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA2	chr6:67909404-67909620	HepG2	liver:	n/a	n/a
27	FOXA2	chr6:67897874-67898039	HepG2	liver:	n/a	n/a
28	GATA2	chr6:67894210-67894686	K562	blood:	n/a	chr6:67894512-67894519 chr6:67894507-67894523 chr6:67894510-67894519 chr6:67894426-67894436
29	GATA2	chr6:67894255-67894702	K562	blood:	n/a	chr6:67894512-67894519 chr6:67894507-67894523 chr6:67894510-67894519 chr6:67894426-67894436
30	GATA3	chr6:67900037-67900229	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr6:67884575-67884771	SH-SY5Y	brain:	n/a	chr6:67884618-67884635
32	GATA3	chr6:67875536-67875891	MCF-7	breast:	n/a	n/a
33	GATA3	chr6:67902502-67902686	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr6:67864963-67865539	MCF-7	breast:	n/a	n/a
35	HNF4A	chr6:67909337-67909611	HepG2	liver:	n/a	chr6:67909515-67909527 chr6:67909516-67909528 chr6:67909514-67909528 chr6:67909514-67909529 chr6:67909514-67909528 chr6:67909514-67909527 chr6:67909515-67909528 chr6:67909515-67909527 chr6:67909512-67909530 chr6:67909514-67909529 chr6:67909514-67909529 chr6:67909514-67909529 chr6:67909514-67909529
36	HNF4A	chr6:67909412-67909567	HepG2	liver:	n/a	chr6:67909515-67909527 chr6:67909516-67909528 chr6:67909514-67909528 chr6:67909514-67909529 chr6:67909514-67909528 chr6:67909514-67909527 chr6:67909515-67909528 chr6:67909515-67909527 chr6:67909512-67909530 chr6:67909514-67909529 chr6:67909514-67909529 chr6:67909514-67909529 chr6:67909514-67909529
37	IRF1	chr6:67877288-67877311	K562	blood:	n/a	n/a
38	IRF1	chr6:67894465-67894598	K562	blood:	n/a	n/a
39	IRF1	chr6:67865327-67865353	K562	blood:	n/a	n/a
40	JUND	chr6:67876955-67877258	HepG2	liver:	n/a	chr6:67877096-67877105
41	KAP1	chr6:67870595-67871274	K562	blood:	n/a	n/a
42	MAFF	chr6:67909377-67909609	HepG2	liver:	n/a	n/a
43	MAFF	chr6:67879955-67880155	HepG2	liver:	n/a	n/a
44	MAFF	chr6:67904369-67904614	HepG2	liver:	n/a	n/a
45	MAFK	chr6:67904467-67904660	HepG2	liver:	n/a	n/a
46	MAFK	chr6:67879871-67880095	HepG2	liver:	n/a	n/a
47	MAFK	chr6:67892341-67892574	HepG2	liver:	n/a	chr6:67892442-67892457 chr6:67892447-67892458 chr6:67892447-67892458 chr6:67892445-67892459 chr6:67892446-67892457
48	MAFK	chr6:67892336-67892604	HepG2	liver:	n/a	chr6:67892442-67892457 chr6:67892447-67892458 chr6:67892447-67892458 chr6:67892445-67892459 chr6:67892446-67892457
49	MAFK	chr6:67909373-67909640	HepG2	liver:	n/a	n/a
50	MAFK	chr6:67879936-67880149	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:67853630..67856068-chr6:67912290..67914729,2	K562	blood:
2	chr6:67888637..67891235-chr6:68062524..68064747,2	K562	blood:
3	chr6:67888418..67890446-chr6:67892977..67895056,2	K562	blood:
4	chr6:67888418..67890446-chr6:67892977..67895056,2	K562	blood:
5	chr6:67877089..67878873-chr6:67880131..67883032,2	K562	blood:
6	chr6:67877089..67878873-chr6:67880131..67883032,2	K562	blood:

Variant related genes	Relation type
ENSG00000266073	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111649067	chr6:67870615-67870616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571748392	chr6:67870652-67870653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533488488	chr6:67870653-67870654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539249598	chr6:67870661-67870662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551602300	chr6:67870701-67870702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566906017	chr6:67870721-67870722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184813360	chr6:67870757-67870758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548544648	chr6:67870766-67870767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537302336	chr6:67876016-67876017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539054382	chr6:67876017-67876018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553202808	chr6:67876052-67876053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148987464	chr6:67876053-67876054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182040803	chr6:67876072-67876073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79388417	chr6:67876126-67876127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79426601	chr6:67876139-67876140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562338161	chr6:67876144-67876145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148277755	chr6:67876146-67876147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191841272	chr6:67876147-67876148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147600151	chr6:67876156-67876157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573163383	chr6:67876163-67876164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564316452	chr6:67876164-67876165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143740199	chr6:67876175-67876176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7752552	chr6:67876186-67876187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559658578	chr6:67876201-67876202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7752573	chr6:67876213-67876214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34507451	chr6:67876219-67876220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370819643	chr6:67876225-67876226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568291407	chr6:67876243-67876244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577148268	chr6:67876288-67876289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550609443	chr6:67876348-67876349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544316461	chr6:67876357-67876358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114394031	chr6:67885002-67885003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9354552	chr6:67885038-67885039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538620450	chr6:67885053-67885054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558549126	chr6:67885066-67885067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140344301	chr6:67885089-67885090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183451902	chr6:67885090-67885091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187733684	chr6:67885116-67885117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574648042	chr6:67885117-67885118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374061066	chr6:67885124-67885125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191451544	chr6:67885134-67885135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563408040	chr6:67885179-67885180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551801439	chr6:67885204-67885205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570007407	chr6:67885205-67885206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16899152	chr6:67885212-67885213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs17442762	chr6:67885302-67885303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34263176	chr6:67885370-67885371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35061221	chr6:67885388-67885389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397885784	chr6:67885390-67885391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567925309	chr6:67909228-67909229	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67870600-67870800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:67876000-67876400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:67885000-67885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:67909200-67909800	Enhancers	HepG2	liver
5	chr6:67910800-67911200	Enhancers	Spleen	Spleen

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