Variant report

Variant	esv2763962
Chromosome Location	chr6:145802158-145817051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:145804152-145805006	HCT-116	colon:	n/a	n/a
2	CBX3	chr6:145804157-145805141	HCT-116	colon:	n/a	n/a
3	CEBPB	chr6:145816017-145816074	IMR90	lung:	n/a	n/a
4	CEBPB	chr6:145815929-145815940	K562	blood:	n/a	n/a
5	CEBPB	chr6:145804131-145805124	HCT-116	colon:	n/a	n/a
6	CTCF	chr6:145812400-145812550	GM12865	blood:	n/a	n/a
7	CTCF	chr6:145812400-145812550	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:145812380-145812530	HEK293	kidney:	n/a	n/a
9	CTCF	chr6:145812320-145812470	Caco-2	colon:	n/a	n/a
10	CTCF	chr6:145812377-145812512	NHEK	skin:	n/a	n/a
11	CTCF	chr6:145812314-145812570	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:145812404-145812483	GM12891	blood:	n/a	n/a
13	CTCF	chr6:145812429-145812525	LNCaP	prostate:	n/a	n/a
14	CTCF	chr6:145812360-145812510	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:145812480-145812630	BE2_C	brain:	n/a	n/a
16	CTCF	chr6:145812320-145812470	HCT-116	colon:	n/a	n/a
17	CTCF	chr6:145812428-145812454	A549	lung:	n/a	n/a
18	CTCF	chr6:145812340-145812490	HMEC	breast:	n/a	n/a
19	CTCF	chr6:145812317-145812581	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:145812354-145812547	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:145812392-145812483	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:145812400-145812550	HMEC	breast:	n/a	n/a
23	CTCF	chr6:145812329-145812516	HepG2	liver:	n/a	n/a
24	CTCF	chr6:145812290-145812719	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:145812360-145812510	SAEC	small airway:	n/a	n/a
26	CTCF	chr6:145812340-145812490	HCT-116	colon:	n/a	n/a
27	CTCF	chr6:145812380-145812530	HepG2	liver:	n/a	n/a
28	CTCF	chr6:145812311-145812531	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr6:145812340-145812490	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr6:145812313-145812585	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:145812360-145812510	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr6:145812300-145812450	A549	lung:	n/a	n/a
33	CTCF	chr6:145812300-145812450	GM06990	blood:	n/a	n/a
34	CTCF	chr6:145812340-145812490	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr6:145812313-145812570	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:145812429-145812443	GM19239	blood:	n/a	n/a
37	CTCF	chr6:145812380-145812530	GM12869	blood:	n/a	n/a
38	CTCF	chr6:145812377-145812504	HepG2	liver:	n/a	n/a
39	CTCF	chr6:145812325-145812567	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:145812320-145812470	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr6:145812380-145812492	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:145812380-145812530	NHEK	skin:	n/a	n/a
43	CTCF	chr6:145812207-145812713	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:145812400-145812403	GM12891	blood:	n/a	n/a
45	E2F6	chr6:145812593-145812920	H1-hESC	embryonic stem cell:	n/a	n/a
46	EP300	chr6:145804254-145804910	Hela-S3	cervix:	n/a	n/a
47	FOS	chr6:145804210-145804937	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:145804243-145804907	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:145804126-145804941	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr6:145804261-145804902	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145812363..145812895-chr6:145954847..145955707,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPM2A-2	chr6:145810766-145812318	NONHSAT115393
2	lnc-EPM2A-2	chr6:145812903-145813228	NONHSAT115393

No data

Variant related genes	Relation type
ENSG00000217612	TF binding region

Extended variants
information (count: 345 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6570687	chr6:145802158-145802159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6937701	chr6:145802211-145802212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34830027	chr6:145802259-145802260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575351384	chr6:145802277-145802278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539424965	chr6:145802280-145802281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559322895	chr6:145802287-145802288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34404462	chr6:145802310-145802311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74881397	chr6:145802344-145802345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114271715	chr6:145802360-145802361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559707653	chr6:145802388-145802389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185258903	chr6:145802410-145802411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189690034	chr6:145802437-145802438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111933042	chr6:145802447-145802448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542002062	chr6:145802486-145802487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563791723	chr6:145802531-145802532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530847331	chr6:145802550-145802551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371760224	chr6:145802595-145802596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530770682	chr6:145802602-145802603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117175027	chr6:145802656-145802657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546828199	chr6:145802706-145802707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371508419	chr6:145802743-145802744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568211679	chr6:145802763-145802764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534502044	chr6:145802785-145802786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371056206	chr6:145802802-145802803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568954996	chr6:145802803-145802804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs365515	chr6:145802833-145802834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs557804219	chr6:145802880-145802881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36094036	chr6:145802957-145802958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566436450	chr6:145802997-145802998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7738882	chr6:145803025-145803026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553624861	chr6:145803034-145803035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574972032	chr6:145803054-145803055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5880642	chr6:145803056-145803057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398085379	chr6:145803057-145803058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542390312	chr6:145803076-145803077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369386786	chr6:145803093-145803094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575353995	chr6:145803105-145803106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181909345	chr6:145803116-145803117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116136576	chr6:145803120-145803121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528465807	chr6:145803154-145803155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186083306	chr6:145803184-145803185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562001312	chr6:145803196-145803197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145746155	chr6:145803208-145803209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370407068	chr6:145803289-145803290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529104767	chr6:145803306-145803307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550776265	chr6:145803332-145803333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569041001	chr6:145803352-145803353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533071183	chr6:145803372-145803373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556953377	chr6:145803460-145803461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377757616	chr6:145803488-145803489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145768200-145803800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:145803200-145805200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:145803400-145803800	Enhancers	Brain Substantia Nigra	brain
4	chr6:145803600-145804600	Enhancers	HMEC	breast
5	chr6:145803600-145804600	Enhancers	NHEK	skin
6	chr6:145803800-145804200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:145803800-145804200	Enhancers	Brain Anterior Caudate	brain
8	chr6:145803800-145804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:145803800-145804600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:145803800-145805600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:145803800-145805600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:145803800-145806000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:145804000-145804800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:145804000-145805200	Enhancers	Hela-S3	cervix
15	chr6:145804200-145805200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:145804400-145805000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:145804400-145805000	Enhancers	HUVEC	blood vessel
18	chr6:145804600-145805000	Flanking Active TSS	HMEC	breast
19	chr6:145804600-145805000	Flanking Active TSS	NHEK	skin
20	chr6:145804600-145805200	Active TSS	A549	lung
21	chr6:145805000-145805400	Enhancers	NHEK	skin
22	chr6:145805000-145805800	Enhancers	HMEC	breast
23	chr6:145805200-145806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:145806400-145806600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:145806400-145806600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:145806400-145806600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:145806400-145806800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:145810800-145812400	Enhancers	Stomach Mucosa	stomach
29	chr6:145811000-145811800	Enhancers	HepG2	liver
30	chr6:145815000-145816400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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