Variant report

Variant	esv2761038
Chromosome Location	chr6:150367163-150371769
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	FOS	chr6:150368268-150368328	MCF10A-Er-Src	breast:	n/a	chr6:150368287-150368295
2	GATA3	chr6:150367952-150368574	MCF-7	breast:	n/a	n/a
3	GATA3	chr6:150367852-150368598	MCF-7	breast:	n/a	n/a
4	KAP1	chr6:150368022-150368389	U2OS	brain:	n/a	n/a
5	NR2F2	chr6:150368110-150368481	K562	blood:	n/a	n/a
6	NR2F2	chr6:150367993-150368534	MCF-7	breast:	n/a	n/a
7	NR2F2	chr6:150367953-150368676	MCF-7	breast:	n/a	n/a
8	POLR2A	chr6:150368106-150368139	MCF10A-Er-Src	breast:	n/a	n/a
9	USF1	chr6:150371643-150371879	K562	blood:	n/a	n/a
10	USF2	chr6:150368206-150368342	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150370900..150376205-chr6:150377396..150379934,4	K562	blood:
2	chr6:150370900..150373661-chr6:150377798..150379934,2	K562	blood:

Variant related genes	Relation type
ENSG00000235972	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200433813	chr6:150367807-150367808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201532335	chr6:150367808-150367809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34522273	chr6:150367810-150367811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9397594	chr6:150367811-150367812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181897583	chr6:150367856-150367857	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs68148292	chr6:150367857-150367858	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs59977038	chr6:150367866-150367867	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11155699	chr6:150367897-150367898	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76476333	chr6:150367919-150367920	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs186585420	chr6:150367938-150367939	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs548625783	chr6:150367947-150367948	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575547721	chr6:150367972-150367973	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367657939	chr6:150367985-150367986	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs386706998	chr6:150367988-150367989	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11961855	chr6:150367990-150367991	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372396091	chr6:150367992-150367993	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147747517	chr6:150368054-150368055	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566279677	chr6:150368063-150368064	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs55664613	chr6:150368077-150368078	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs534394964	chr6:150368078-150368079	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs375819583	chr6:150368094-150368095	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574617837	chr6:150368099-150368100	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs11969104	chr6:150368110-150368111	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557040364	chr6:150368116-150368117	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143357535	chr6:150368124-150368125	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs114825799	chr6:150368127-150368128	Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559246695	chr6:150368179-150368180	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs530325402	chr6:150368183-150368184	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs375974712	chr6:150368184-150368185	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs11155700	chr6:150368264-150368265	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs77295064	chr6:150368325-150368326	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs67800658	chr6:150368439-150368440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572706137	chr6:150368447-150368448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73616484	chr6:150368456-150368457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546894845	chr6:150368509-150368510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569726326	chr6:150368529-150368530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529074809	chr6:150368532-150368533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549217489	chr6:150368535-150368536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370658741	chr6:150368555-150368556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146803120	chr6:150368589-150368590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72170510	chr6:150368595-150368596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386706999	chr6:150368606-150368607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200649651	chr6:150368607-150368608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs118036672	chr6:150368612-150368613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552857632	chr6:150368635-150368636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112097287	chr6:150368661-150368662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535202847	chr6:150368671-150368672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550109292	chr6:150368689-150368690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112353140	chr6:150368699-150368700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568155808	chr6:150368721-150368722	Enhancers	n/a	n/a	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
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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150367800-150368400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:150367800-150368800	Enhancers	Hela-S3	cervix
3	chr6:150368000-150368400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:150369200-150369600	Enhancers	Primary T cells from cord blood	blood

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