Variant report

Variant	esv3451797
Chromosome Location	chr6:67912280-67945520
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	chr6:67931141-67931480	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:67928349-67928653	K562	blood:	n/a	chr6:67928420-67928431
3	CEBPB	chr6:67928387-67928645	A549	lung:	n/a	chr6:67928420-67928431
4	CEBPB	chr6:67920378-67920734	MCF-7	breast:	n/a	chr6:67920577-67920588
5	CEBPB	chr6:67928372-67928691	IMR90	lung:	n/a	chr6:67928420-67928431
6	CEBPB	chr6:67920391-67920737	K562	blood:	n/a	chr6:67920577-67920588
7	CEBPB	chr6:67928381-67928606	H1-hESC	embryonic stem cell:	n/a	chr6:67928420-67928431
8	CEBPB	chr6:67928372-67928641	Hela-S3	cervix:	n/a	chr6:67928420-67928431
9	CEBPB	chr6:67934869-67935309	K562	blood:	n/a	chr6:67934889-67934900
10	CEBPB	chr6:67938254-67938518	IMR90	lung:	n/a	chr6:67938392-67938401 chr6:67938390-67938401 chr6:67938390-67938403
11	CEBPB	chr6:67934810-67935077	IMR90	lung:	n/a	chr6:67934889-67934900
12	CEBPB	chr6:67920409-67920731	HepG2	liver:	n/a	chr6:67920577-67920588
13	CEBPB	chr6:67938257-67938547	HepG2	liver:	n/a	chr6:67938392-67938401 chr6:67938390-67938401 chr6:67938390-67938403
14	CEBPB	chr6:67940362-67940609	K562	blood:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
15	CEBPB	chr6:67920300-67920776	MCF-7	breast:	n/a	chr6:67920577-67920588
16	CEBPB	chr6:67940445-67940606	HepG2	liver:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
17	CEBPB	chr6:67920391-67920705	K562	blood:	n/a	chr6:67920577-67920588
18	CEBPB	chr6:67928340-67928685	HepG2	liver:	n/a	chr6:67928420-67928431
19	CEBPB	chr6:67940455-67940651	H1-hESC	embryonic stem cell:	n/a	chr6:67940520-67940531 chr6:67940477-67940488
20	CEBPB	chr6:67934804-67935082	HepG2	liver:	n/a	chr6:67934889-67934900
21	CTCF	chr6:67929260-67929410	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr6:67929308-67929417	ProgFib	skin:	n/a	n/a
23	CTCF	chr6:67922960-67923110	BE2_C	brain:	n/a	n/a
24	CTCF	chr6:67940020-67940170	HepG2	liver:	n/a	n/a
25	E2F4	chr6:67923503-67923813	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr6:67922370-67922632	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr6:67922108-67923824	SK-N-SH	brain:	n/a	n/a
28	EP300	chr6:67931196-67931443	Hela-S3	cervix:	n/a	n/a
29	EP300	chr6:67920109-67920839	MCF-7	breast:	n/a	n/a
30	EP300	chr6:67923249-67923583	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr6:67922279-67922605	SK-N-SH_RA	brain:	n/a	n/a
32	FOS	chr6:67936694-67937437	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351
33	FOS	chr6:67936603-67936855	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:67920301-67920719	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:67931136-67931537	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:67937115-67937464	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351
37	FOS	chr6:67931130-67931498	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:67920361-67920718	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:67920355-67920710	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr6:67931148-67931504	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr6:67937206-67937401	MCF10A-Er-Src	breast:	n/a	chr6:67937343-67937351 chr6:67937343-67937350 chr6:67937343-67937351
42	FOS	chr6:67931113-67931513	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr6:67920362-67920710	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr6:67920355-67920697	MCF-7	breast:	n/a	n/a
45	FOXA1	chr6:67915079-67915295	HepG2	liver:	n/a	n/a
46	FOXA1	chr6:67915046-67915350	HepG2	liver:	n/a	n/a
47	FOXA1	chr6:67915043-67915310	HepG2	liver:	n/a	n/a
48	FOXM1	chr6:67920156-67920877	MCF-7	breast:	n/a	n/a
49	GATA3	chr6:67920070-67920966	MCF-7	breast:	n/a	n/a
50	GATA3	chr6:67922363-67922586	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:67940673..67943387-chr6:67944462..67947455,2	MCF-7	breast:
2	chr6:67923810..67925750-chr6:67926743..67929224,2	K562	blood:
3	chr6:67853630..67856068-chr6:67912290..67914729,2	K562	blood:
4	chr6:67923810..67925750-chr6:67926743..67929224,2	K562	blood:
5	chr6:67940673..67943387-chr6:67944462..67947455,2	MCF-7	breast:
6	chr6:67936794..67940215-chr6:67944493..67947517,4	K562	blood:
7	chr6:67937265..67939160-chr6:67944827..67947811,2	K562	blood:
8	chr6:67937265..67939160-chr6:67944827..67947811,2	K562	blood:
9	chr6:67936794..67940215-chr6:67944493..67947517,4	K562	blood:

Variant related genes	Relation type
ENSG00000212229	TF binding region

Extended variants
information (count: 237 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114015049	chr6:67920385-67920386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534263541	chr6:67920497-67920498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566936491	chr6:67920511-67920512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs367974900	chr6:67920538-67920539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs536093093	chr6:67920573-67920574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534226057	chr6:67920587-67920588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12153854	chr6:67920632-67920633	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs575652606	chr6:67920633-67920634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187700435	chr6:67920649-67920650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557700331	chr6:67920686-67920687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141110539	chr6:67920699-67920700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538870721	chr6:67920718-67920719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs545674386	chr6:67920735-67920736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559636964	chr6:67920739-67920740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556927036	chr6:67920740-67920741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572952511	chr6:67920750-67920751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541963942	chr6:67920765-67920766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs35152466	chr6:67920800-67920801	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192504991	chr6:67920820-67920821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs76447563	chr6:67920853-67920854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556799890	chr6:67920893-67920894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183936031	chr6:67920923-67920924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181404149	chr6:67921948-67921949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113564391	chr6:67921967-67921968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539973727	chr6:67921970-67921971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368856669	chr6:67921971-67921972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs560071628	chr6:67921972-67921973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141635926	chr6:67921986-67921987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543295444	chr6:67921994-67921995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562887858	chr6:67922008-67922009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs531884293	chr6:67922026-67922027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116219975	chr6:67922108-67922109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547604484	chr6:67922126-67922127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567636759	chr6:67922131-67922132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs186277225	chr6:67922173-67922174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189517305	chr6:67922188-67922189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181849879	chr6:67922221-67922222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185213914	chr6:67922265-67922266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs117535791	chr6:67922298-67922299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570925895	chr6:67922318-67922319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs377351253	chr6:67922387-67922388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557955165	chr6:67922430-67922431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377412378	chr6:67922601-67922602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs572712621	chr6:67922602-67922603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs577939455	chr6:67922625-67922626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540305805	chr6:67922667-67922668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190696252	chr6:67922693-67922694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181481816	chr6:67922695-67922696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542208973	chr6:67922807-67922808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs186188327	chr6:67922809-67922810	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:10 , 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

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