Variant report

Variant	esv3327406
Chromosome Location	chr6:153745059-153748457
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	chr6:153748208-153748497	MCF10A-Er-Src	breast:	n/a	chr6:153748344-153748353
2	FOS	chr6:153745870-153746149	HUVEC	blood vessel:	n/a	chr6:153746012-153746023
3	FOS	chr6:153746004-153746206	MCF10A-Er-Src	breast:	n/a	chr6:153746012-153746023
4	FOS	chr6:153745946-153746120	MCF10A-Er-Src	breast:	n/a	chr6:153746012-153746023
5	GATA3	chr6:153745743-153746243	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr6:153745702-153746275	SK-N-SH	brain:	n/a	n/a
7	JUN	chr6:153745925-153746107	HepG2	liver:	n/a	n/a
8	JUND	chr6:153745893-153746169	HepG2	liver:	n/a	chr6:153746012-153746023
9	JUND	chr6:153747537-153747828	HepG2	liver:	n/a	chr6:153747699-153747710
10	MYC	chr6:153745250-153745412	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr6:153748277-153748405	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr6:153746155-153746329	H1-hESC	embryonic stem cell:	n/a	n/a
13	RFX5	chr6:153746896-153746933	K562	blood:	n/a	n/a
14	SETDB1	chr6:153746176-153746408	U2OS	brain:	n/a	n/a
15	SPI1	chr6:153748054-153748327	GM12878	blood:	n/a	chr6:153748170-153748183

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:153747500..153749938-chr6:153764561..153767093,2	K562	blood:

Variant related genes	Relation type
ENSG00000264858	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111429317	chr6:153746203-153746204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74981148	chr6:153746224-153746225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79958717	chr6:153746241-153746242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367568407	chr6:153746257-153746258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3860820	chr6:153746273-153746274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79167120	chr6:153746281-153746282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377504195	chr6:153746300-153746301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374569610	chr6:153746306-153746307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74844611	chr6:153746311-153746312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539006443	chr6:153746323-153746324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs67129617	chr6:153746330-153746331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147111578	chr6:153746360-153746361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371929456	chr6:153746385-153746386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80344828	chr6:153746388-153746389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376934379	chr6:153746403-153746404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569307914	chr6:153746436-153746437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372433401	chr6:153746440-153746441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138668830	chr6:153746452-153746453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78408296	chr6:153746500-153746501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563302988	chr6:153746510-153746511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73014451	chr6:153746546-153746547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73014452	chr6:153746556-153746557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4033849	chr6:153746557-153746558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200269421	chr6:153746569-153746570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146539343	chr6:153746573-153746574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112348328	chr6:153746587-153746588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73014454	chr6:153746589-153746590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574307683	chr6:153746596-153746597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9479600	chr6:153746604-153746605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73014455	chr6:153746632-153746633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74197659	chr6:153746640-153746641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79141879	chr6:153746647-153746648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73014456	chr6:153746659-153746660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73014458	chr6:153746677-153746678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116842903	chr6:153746685-153746686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201683766	chr6:153746705-153746706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150991396	chr6:153746710-153746711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111879659	chr6:153746716-153746717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557223524	chr6:153746717-153746718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142281235	chr6:153746750-153746751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369027838	chr6:153746764-153746765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575312588	chr6:153746793-153746794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369996870	chr6:153746794-153746795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374613670	chr6:153746798-153746799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374109831	chr6:153746813-153746814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78237603	chr6:153746838-153746839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74715139	chr6:153746875-153746876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113688272	chr6:153746876-153746877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77541648	chr6:153746877-153746878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs36196761	chr6:153746892-153746893	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
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153746200-153747000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:153746600-153748800	Enhancers	HMEC	breast
3	chr6:153746800-153747600	Enhancers	NH-A	brain
4	chr6:153747000-153747800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:153747800-153748800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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