Variant report

Variant	nsv886094
Chromosome Location	chr6:67895080-67963392
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	BRCA1	chr6:67895182-67895225	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:67934810-67935077	IMR90	lung:	n/a	chr6:67934889-67934900
3	CEBPB	chr6:67928372-67928641	Hela-S3	cervix:	n/a	chr6:67928420-67928431
4	CEBPB	chr6:67920391-67920737	K562	blood:	n/a	chr6:67920577-67920588
5	CEBPB	chr6:67920300-67920776	MCF-7	breast:	n/a	chr6:67920577-67920588
6	CEBPB	chr6:67938257-67938547	HepG2	liver:	n/a	chr6:67938392-67938401 chr6:67938390-67938401 chr6:67938390-67938403
7	CEBPB	chr6:67928349-67928653	K562	blood:	n/a	chr6:67928420-67928431
8	CEBPB	chr6:67934869-67935309	K562	blood:	n/a	chr6:67934889-67934900
9	CEBPB	chr6:67928372-67928691	IMR90	lung:	n/a	chr6:67928420-67928431
10	CEBPB	chr6:67931141-67931480	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:67947606-67948049	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr6:67938254-67938518	IMR90	lung:	n/a	chr6:67938392-67938401 chr6:67938390-67938401 chr6:67938390-67938403
13	CEBPB	chr6:67928387-67928645	A549	lung:	n/a	chr6:67928420-67928431
14	CEBPB	chr6:67934804-67935082	HepG2	liver:	n/a	chr6:67934889-67934900
15	CEBPB	chr6:67906474-67906644	K562	blood:	n/a	chr6:67906566-67906579
16	CEBPB	chr6:67920391-67920705	K562	blood:	n/a	chr6:67920577-67920588
17	CEBPB	chr6:67928340-67928685	HepG2	liver:	n/a	chr6:67928420-67928431
18	CEBPB	chr6:67940445-67940606	HepG2	liver:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
19	CEBPB	chr6:67920409-67920731	HepG2	liver:	n/a	chr6:67920577-67920588
20	CEBPB	chr6:67940455-67940651	H1-hESC	embryonic stem cell:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
21	CEBPB	chr6:67940362-67940609	K562	blood:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
22	CEBPB	chr6:67928381-67928606	H1-hESC	embryonic stem cell:	n/a	chr6:67928420-67928431
23	CEBPB	chr6:67920378-67920734	MCF-7	breast:	n/a	chr6:67920577-67920588
24	CHD2	chr6:67946908-67946928	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:67954262-67954334	Fibrobl	skin:	n/a	n/a
26	CTCF	chr6:67922960-67923110	BE2_C	brain:	n/a	n/a
27	CTCF	chr6:67929308-67929417	ProgFib	skin:	n/a	n/a
28	CTCF	chr6:67929260-67929410	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr6:67907920-67907948	GM10248	blood:	n/a	n/a
30	CTCF	chr6:67940020-67940170	HepG2	liver:	n/a	n/a
31	E2F4	chr6:67946145-67946433	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr6:67923503-67923813	MCF10A-Er-Src	breast:	n/a	n/a
33	EP300	chr6:67962538-67962898	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr6:67923249-67923583	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr6:67962493-67963014	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr6:67962173-67963787	SK-N-SH	brain:	n/a	n/a
37	EP300	chr6:67920109-67920839	MCF-7	breast:	n/a	n/a
38	EP300	chr6:67900733-67900894	GM12878	blood:	n/a	chr6:67900849-67900858 chr6:67900842-67900856 chr6:67900848-67900862
39	EP300	chr6:67922108-67923824	SK-N-SH	brain:	n/a	n/a
40	EP300	chr6:67931196-67931443	Hela-S3	cervix:	n/a	n/a
41	EP300	chr6:67922370-67922632	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr6:67922279-67922605	SK-N-SH_RA	brain:	n/a	n/a
43	FOS	chr6:67931130-67931498	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr6:67931113-67931513	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr6:67931136-67931537	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr6:67937115-67937464	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351
47	FOS	chr6:67920355-67920710	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:67936603-67936855	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:67920361-67920718	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr6:67937206-67937401	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351

No.	Distal block	Cell Line	Cell type
1	chr6:67961598..67964297-chr6:68597509..68599037,2	K562	blood:
2	chr6:67940673..67943387-chr6:67944462..67947455,2	MCF-7	breast:
3	chr6:67937265..67939160-chr6:67944827..67947811,2	K562	blood:
4	chr6:67936794..67940215-chr6:67944493..67947517,4	K562	blood:
5	chr6:67950191..67952805-chr6:67955013..67956540,2	K562	blood:
6	chr6:67937265..67939160-chr6:67944827..67947811,2	K562	blood:
7	chr6:67923810..67925750-chr6:67926743..67929224,2	K562	blood:
8	chr6:67957680..67959538-chr6:67961788..67963871,2	K562	blood:
9	chr6:67853630..67856068-chr6:67912290..67914729,2	K562	blood:
10	chr6:67957680..67959538-chr6:67961788..67963871,2	K562	blood:
11	chr6:67936794..67940215-chr6:67944493..67947517,4	K562	blood:
12	chr6:67950191..67952805-chr6:67955013..67956540,2	K562	blood:
13	chr6:67940673..67943387-chr6:67944462..67947455,2	MCF-7	breast:
14	chr6:67923810..67925750-chr6:67926743..67929224,2	K562	blood:

Variant related genes	Relation type
ENSG00000212229	TF binding region

Extended variants
information (count: 600 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567925309	chr6:67909228-67909229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536712828	chr6:67909243-67909244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150173439	chr6:67909275-67909276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138620704	chr6:67909279-67909280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548764466	chr6:67909410-67909411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149300638	chr6:67909417-67909418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545512486	chr6:67909516-67909517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181248555	chr6:67909524-67909525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573625581	chr6:67909527-67909528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542541948	chr6:67909536-67909537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562230416	chr6:67909542-67909543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531150926	chr6:67909543-67909544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544672648	chr6:67909548-67909549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186229355	chr6:67909609-67909610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528005314	chr6:67909610-67909611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74768406	chr6:67909612-67909613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552573531	chr6:67909618-67909619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190525965	chr6:67909620-67909621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566864068	chr6:67909642-67909643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570841005	chr6:67909643-67909644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528330661	chr6:67909644-67909645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538279296	chr6:67909657-67909658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377002968	chr6:67909675-67909676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549999593	chr6:67909746-67909747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111308045	chr6:67909754-67909755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201158210	chr6:67909760-67909761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567884397	chr6:67909770-67909771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536872077	chr6:67909774-67909775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550631799	chr6:67909791-67909792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570494174	chr6:67909800-67909801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528893495	chr6:67910809-67910810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565427363	chr6:67910818-67910819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143969775	chr6:67910819-67910820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115739727	chr6:67910861-67910862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574483375	chr6:67910873-67910874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145802704	chr6:67910876-67910877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141683872	chr6:67910879-67910880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145465029	chr6:67910885-67910886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571724844	chr6:67910993-67910994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147687015	chr6:67910994-67910995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142345356	chr6:67910995-67910996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560686676	chr6:67911077-67911078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558064554	chr6:67911098-67911099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542715098	chr6:67911124-67911125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76904122	chr6:67911159-67911160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9345986	chr6:67911165-67911166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs202038325	chr6:67911173-67911174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114015049	chr6:67920385-67920386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534263541	chr6:67920497-67920498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs566936491	chr6:67920511-67920512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67909200-67909800	Enhancers	HepG2	liver
2	chr6:67910800-67911200	Enhancers	Spleen	Spleen
3	chr6:67929200-67929600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:67929200-67930200	Enhancers	Fetal Muscle Leg	muscle
5	chr6:67930000-67930200	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:67932600-67933000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:67936200-67937400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:67936400-67937000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:67936400-67938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:67937000-67937400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:67937400-67937800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:67941000-67941400	Enhancers	Dnd41	blood
13	chr6:67949000-67949800	Enhancers	Aorta	Aorta
14	chr6:67954200-67954600	ZNF genes & repeats	Pancreas	Pancrea
15	chr6:67957000-67959000	Enhancers	Dnd41	blood
16	chr6:67958000-67958400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:67959000-67962000	Weak transcription	Dnd41	blood
18	chr6:67962000-67963800	Enhancers	Dnd41	blood
19	chr6:67962800-67963200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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