Variant report

Variant	esv3490218
Chromosome Location	chr6:73918506-73933339
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	chr6:73927447-73927732	H1-hESC	embryonic stem cell:	n/a	chr6:73927593-73927604
2	CEBPB	chr6:73927466-73927741	MCF-7	breast:	n/a	chr6:73927593-73927604
3	CEBPB	chr6:73927419-73927762	HepG2	liver:	n/a	chr6:73927593-73927604
4	CEBPB	chr6:73930444-73930619	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:73920035-73920162	K562	blood:	n/a	n/a
6	CEBPB	chr6:73927442-73927728	K562	blood:	n/a	chr6:73927593-73927604
7	CEBPB	chr6:73927418-73927765	IMR90	lung:	n/a	chr6:73927593-73927604
8	CEBPB	chr6:73927442-73927772	A549	lung:	n/a	chr6:73927593-73927604
9	CTCF	chr6:73928784-73928825	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr6:73925740-73925890	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr6:73925760-73925910	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr6:73925760-73925910	HCFaa	heart:	n/a	n/a
13	CTCF	chr6:73925760-73925910	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr6:73927604-73927623	GM13976	blood:	n/a	n/a
15	CTCF	chr6:73925640-73925790	HEK293	kidney:	n/a	n/a
16	EP300	chr6:73928135-73928386	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr6:73928111-73928342	SK-N-SH_RA	brain:	n/a	n/a
18	ESR1	chr6:73919342-73919610	ECC-1	luminal epithelium:	n/a	n/a
19	FOS	chr6:73930324-73930681	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr6:73930337-73930671	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr6:73930348-73930656	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:73930340-73930656	MCF10A-Er-Src	breast:	n/a	n/a
23	GABPA	chr6:73921183-73921292	HepG2	liver:	n/a	n/a
24	GABPA	chr6:73921185-73921264	HepG2	liver:	n/a	n/a
25	GATA2	chr6:73928094-73928415	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr6:73927937-73928428	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr6:73928037-73928340	SK-N-SH	brain:	n/a	n/a
28	MAFF	chr6:73930058-73930156	HepG2	liver:	n/a	chr6:73930085-73930103
29	MAFK	chr6:73930073-73930097	HepG2	liver:	n/a	n/a
30	MAFK	chr6:73929942-73930150	HepG2	liver:	n/a	chr6:73930086-73930101
31	MAFK	chr6:73928817-73928947	HepG2	liver:	n/a	n/a
32	MAFK	chr6:73929988-73930185	IMR90	lung:	n/a	chr6:73930086-73930101
33	MYC	chr6:73929313-73929347	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr6:73925229-73925261	MCF-7	breast:	n/a	n/a
35	MYC	chr6:73931827-73931908	MCF-7	breast:	n/a	n/a
36	PBX3	chr6:73929809-73930199	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr6:73920205-73920356	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:73932302-73932338	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:73932219-73932335	MCF-7	breast:	n/a	n/a
40	POLR2A	chr6:73932193-73932397	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:73924367-73924407	Gliobla	brain:	n/a	n/a
42	POLR2A	chr6:73932361-73932420	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	6:73859137-73881637..6:73927031-73938730	Hela-S3	cervix:
2	chr6:73917306..73919203-chr6:73947739..73949540,2	K562	blood:
3	chr6:73919854..73922252-chr6:73925613..73927312,3	K562	blood:
4	6:73927031-73938730..6:74000304-74012200	K562	blood:
5	chr6:73919854..73922252-chr6:73925613..73927312,3	K562	blood:

Variant related genes	Relation type
KHDC1P1	TF binding region
ENSG00000234025	chromatin interactions
ENSG00000234882	chromatin interactions

Extended variants
information (count: 627 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191899396	chr6:73918512-73918513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148087495	chr6:73918529-73918530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577347700	chr6:73918543-73918544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184023622	chr6:73918545-73918546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72948863	chr6:73918549-73918550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200756100	chr6:73918554-73918555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556548713	chr6:73918560-73918561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574884927	chr6:73918572-73918573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2350381	chr6:73918583-73918584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2350380	chr6:73918599-73918600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528250400	chr6:73918638-73918639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540554999	chr6:73918651-73918652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs41265513	chr6:73918665-73918666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532247263	chr6:73918668-73918669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2350379	chr6:73918669-73918670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562104743	chr6:73918674-73918675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371129974	chr6:73918691-73918692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386702652	chr6:73918698-73918699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9360650	chr6:73918700-73918701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs41265515	chr6:73918708-73918709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575535317	chr6:73918727-73918728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534119403	chr6:73918770-73918771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552772869	chr6:73918791-73918792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143843453	chr6:73918819-73918820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7771553	chr6:73918840-73918841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368473184	chr6:73918887-73918888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556634169	chr6:73918898-73918899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375152428	chr6:73918904-73918905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7771888	chr6:73918923-73918924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2350378	chr6:73918924-73918925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs947752	chr6:73918929-73918930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540059646	chr6:73918949-73918950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564692576	chr6:73918969-73918970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1974370	chr6:73918981-73918982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576736623	chr6:73918985-73918986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2350377	chr6:73918987-73918988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562551820	chr6:73918988-73918989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3897515	chr6:73919000-73919001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2350376	chr6:73919032-73919033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150953142	chr6:73919035-73919036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527330526	chr6:73919066-73919067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552811378	chr6:73919086-73919087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2350375	chr6:73919087-73919088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538583770	chr6:73919100-73919101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528894700	chr6:73919103-73919104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576265164	chr6:73919122-73919123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550472233	chr6:73919133-73919134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35101010	chr6:73919171-73919172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs947749	chr6:73919172-73919173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554108733	chr6:73919224-73919225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73913400-73919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:73916200-73919400	Enhancers	Stomach Mucosa	stomach
3	chr6:73916200-73933800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:73919400-73920800	Weak transcription	Stomach Mucosa	stomach
5	chr6:73919600-73920000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:73920800-73921000	Enhancers	Stomach Mucosa	stomach
7	chr6:73928000-73929000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:73931400-73933000	Weak transcription	Ovary	ovary
9	chr6:73931600-73933200	Weak transcription	Fetal Brain Female	brain
10	chr6:73932800-73935200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:73932800-73935200	Weak transcription	Fetal Lung	lung
12	chr6:73933000-73934000	Strong transcription	Ovary	ovary
13	chr6:73933200-73933600	Strong transcription	Fetal Brain Female	brain

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