Variant report

Variant	nsv886095
Chromosome Location	chr6:67921402-67991737
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	CEBPB	chr6:67940455-67940651	H1-hESC	embryonic stem cell:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
2	CEBPB	chr6:67934804-67935082	HepG2	liver:	n/a	chr6:67934889-67934900
3	CEBPB	chr6:67985758-67985958	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:67934810-67935077	IMR90	lung:	n/a	chr6:67934889-67934900
5	CEBPB	chr6:67940362-67940609	K562	blood:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
6	CEBPB	chr6:67940445-67940606	HepG2	liver:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
7	CEBPB	chr6:67928372-67928641	Hela-S3	cervix:	n/a	chr6:67928420-67928431
8	CEBPB	chr6:67928387-67928645	A549	lung:	n/a	chr6:67928420-67928431
9	CEBPB	chr6:67928340-67928685	HepG2	liver:	n/a	chr6:67928420-67928431
10	CEBPB	chr6:67928349-67928653	K562	blood:	n/a	chr6:67928420-67928431
11	CEBPB	chr6:67938257-67938547	HepG2	liver:	n/a	chr6:67938392-67938401 chr6:67938390-67938401 chr6:67938390-67938403
12	CEBPB	chr6:67947606-67948049	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr6:67966988-67967167	K562	blood:	n/a	chr6:67967145-67967157 chr6:67967080-67967093
14	CEBPB	chr6:67931141-67931480	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr6:67938254-67938518	IMR90	lung:	n/a	chr6:67938392-67938401 chr6:67938390-67938401 chr6:67938390-67938403
16	CEBPB	chr6:67928372-67928691	IMR90	lung:	n/a	chr6:67928420-67928431
17	CEBPB	chr6:67934869-67935309	K562	blood:	n/a	chr6:67934889-67934900
18	CEBPB	chr6:67987268-67987446	K562	blood:	n/a	chr6:67987338-67987349
19	CEBPB	chr6:67928381-67928606	H1-hESC	embryonic stem cell:	n/a	chr6:67928420-67928431
20	CHD2	chr6:67946908-67946928	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:67929308-67929417	ProgFib	skin:	n/a	n/a
22	CTCF	chr6:67954262-67954334	Fibrobl	skin:	n/a	n/a
23	CTCF	chr6:67986532-67986711	K562	blood:	n/a	n/a
24	CTCF	chr6:67986420-67986570	HEK293	kidney:	n/a	n/a
25	CTCF	chr6:67922960-67923110	BE2_C	brain:	n/a	n/a
26	CTCF	chr6:67986480-67986630	HEK293	kidney:	n/a	n/a
27	CTCF	chr6:67986520-67986670	HepG2	liver:	n/a	n/a
28	CTCF	chr6:67929260-67929410	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr6:67966684-67966797	GM20000	blood:	n/a	n/a
30	CTCF	chr6:67940020-67940170	HepG2	liver:	n/a	n/a
31	E2F4	chr6:67923503-67923813	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr6:67946145-67946433	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr6:67982898-67983053	MCF10A-Er-Src	breast:	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	chr6:67922279-67922605	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr6:67980926-67981005	GM12878	blood:	n/a	n/a
38	EP300	chr6:67922370-67922632	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr6:67962538-67962898	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr6:67931196-67931443	Hela-S3	cervix:	n/a	n/a
41	EP300	chr6:67962173-67963787	SK-N-SH	brain:	n/a	n/a
42	EP300	chr6:67922108-67923824	SK-N-SH	brain:	n/a	n/a
43	FOS	chr6:67936603-67936855	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr6:67931136-67931537	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr6:67937206-67937401	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351
46	FOS	chr6:67931148-67931504	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr6:67931113-67931513	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:67931130-67931498	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:67936694-67937437	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351
50	FOS	chr6:67937115-67937464	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351

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

Variant related genes	Relation type
ENSG00000212229	TF binding region

Extended variants
information (count: 714 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181404149	chr6:67921948-67921949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113564391	chr6:67921967-67921968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs539973727	chr6:67921970-67921971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368856669	chr6:67921971-67921972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560071628	chr6:67921972-67921973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs141635926	chr6:67921986-67921987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543295444	chr6:67921994-67921995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562887858	chr6:67922008-67922009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531884293	chr6:67922026-67922027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs116219975	chr6:67922108-67922109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs547604484	chr6:67922126-67922127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567636759	chr6:67922131-67922132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186277225	chr6:67922173-67922174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs189517305	chr6:67922188-67922189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181849879	chr6:67922221-67922222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185213914	chr6:67922265-67922266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs117535791	chr6:67922298-67922299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570925895	chr6:67922318-67922319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs377351253	chr6:67922387-67922388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557955165	chr6:67922430-67922431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs377412378	chr6:67922601-67922602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572712621	chr6:67922602-67922603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577939455	chr6:67922625-67922626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs540305805	chr6:67922667-67922668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs190696252	chr6:67922693-67922694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs181481816	chr6:67922695-67922696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542208973	chr6:67922807-67922808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs186188327	chr6:67922809-67922810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs559632929	chr6:67922824-67922825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76982361	chr6:67922836-67922837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545318516	chr6:67922846-67922847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs115434291	chr6:67922917-67922918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557137529	chr6:67922936-67922937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs547861862	chr6:67922995-67922996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs116815635	chr6:67923004-67923005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112618700	chr6:67923010-67923011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138598436	chr6:67923052-67923053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569030283	chr6:67923094-67923095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs62418988	chr6:67923098-67923099	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570086566	chr6:67923124-67923125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538114645	chr6:67923157-67923158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs191884847	chr6:67923171-67923172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs144076128	chr6:67923174-67923175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs147316238	chr6:67923175-67923176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs553932651	chr6:67923255-67923256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs183192687	chr6:67923271-67923272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554480292	chr6:67923282-67923283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs187486584	chr6:67923301-67923302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555715393	chr6:67923350-67923351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575662348	chr6:67923372-67923373	Inactive region	TF binding region	1 gene(s)	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	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67929200-67929600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:67929200-67930200	Enhancers	Fetal Muscle Leg	muscle
3	chr6:67930000-67930200	Enhancers	Fetal Muscle Trunk	muscle
4	chr6:67932600-67933000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:67936200-67937400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:67936400-67937000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:67936400-67938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:67937000-67937400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:67937400-67937800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:67941000-67941400	Enhancers	Dnd41	blood
11	chr6:67949000-67949800	Enhancers	Aorta	Aorta
12	chr6:67954200-67954600	ZNF genes & repeats	Pancreas	Pancrea
13	chr6:67957000-67959000	Enhancers	Dnd41	blood
14	chr6:67958000-67958400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:67959000-67962000	Weak transcription	Dnd41	blood
16	chr6:67962000-67963800	Enhancers	Dnd41	blood
17	chr6:67962800-67963200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:67975200-67977600	Weak transcription	Right Atrium	heart
19	chr6:67975800-67976400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:67975800-67976600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:67975800-67976600	Enhancers	K562	blood
22	chr6:67975800-67976800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:67976000-67976800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:67976200-67976400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:67976600-67978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:67976800-67978000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:67977800-67978400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:67978000-67978400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:67978000-67978400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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