Variant report

Variant	esv3330501
Chromosome Location	chr6:142394109-142397507
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	ESR1	chr6:142396584-142397098	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr6:142396578-142397136	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr6:142396600-142397014	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr6:142396659-142397006	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr6:142396654-142396948	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr6:142395770-142395970	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:142396595-142396807	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:142395805-142395935	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:142395732-142395932	MCF10A-Er-Src	breast:	n/a	n/a
10	KAP1	chr6:142395472-142395621	K562	blood:	n/a	n/a
11	POLR2A	chr6:142396186-142396249	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:142397289-142397394	MCF10A-Er-Src	breast:	n/a	n/a
13	SPI1	chr6:142396816-142397068	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142388215..142391078-chr6:142393829..142396159,2	K562	blood:

Variant related genes	Relation type
NMBR	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546579304	chr6:142396411-142396412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568339116	chr6:142396465-142396466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535304395	chr6:142396499-142396500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556725302	chr6:142396520-142396521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180808089	chr6:142396583-142396584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528588234	chr6:142396586-142396587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539170919	chr6:142396612-142396613	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs559053998	chr6:142396634-142396635	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs557398500	chr6:142396635-142396636	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs572761365	chr6:142396646-142396647	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs367706106	chr6:142396656-142396657	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs540180901	chr6:142396659-142396660	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs118178270	chr6:142396726-142396727	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs372029137	chr6:142396747-142396748	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs200430957	chr6:142396748-142396749	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs376713147	chr6:142396750-142396751	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs79017077	chr6:142396758-142396759	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs7453944	chr6:142396790-142396791	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561318773	chr6:142396824-142396825	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371294748	chr6:142396828-142396829	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373986126	chr6:142396833-142396834	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372464571	chr6:142396839-142396840	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138713396	chr6:142396854-142396855	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370085213	chr6:142396855-142396856	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113235463	chr6:142396878-142396879	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145529527	chr6:142396884-142396885	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs199759013	chr6:142396886-142396887	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs138140993	chr6:142396905-142396906	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372175532	chr6:142396910-142396911	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544356213	chr6:142396925-142396926	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs549346063	chr6:142396932-142396933	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs35738316	chr6:142396934-142396935	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199835105	chr6:142396939-142396940	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371670947	chr6:142396943-142396944	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201703637	chr6:142396956-142396957	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550434021	chr6:142396963-142396964	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568729056	chr6:142396974-142396975	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141607430	chr6:142396979-142396980	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs536447941	chr6:142396985-142396986	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150510076	chr6:142397002-142397003	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs41289827	chr6:142397005-142397006	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs368923441	chr6:142397008-142397009	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368348932	chr6:142397020-142397021	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148442580	chr6:142397021-142397022	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186199835	chr6:142397029-142397030	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142626832	chr6:142397030-142397031	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147505654	chr6:142397040-142397041	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs200068103	chr6:142397042-142397043	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375137066	chr6:142397047-142397048	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150579060	chr6:142397048-142397049	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
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
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	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
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142396400-142397400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:142396600-142397000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr6:142396600-142397400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:142396800-142397000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr6:142396800-142397000	Enhancers	Pancreas	Pancrea
6	chr6:142396800-142397200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:142396800-142397200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:142396800-142397200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:142396800-142397200	Enhancers	Dnd41	blood
10	chr6:142397000-142397200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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