Variant report

Variant	esv3403601
Chromosome Location	chr6:68760881-68762079
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	GATA2	chr6:68761306-68761659	K562	blood:	n/a	n/a
2	MYC	chr6:68761495-68761584	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:68593412..68595516-chr6:68761853..68764592,2	K562	blood:
2	chr6:68590010..68592116-chr6:68758239..68761217,2	K562	blood:
3	chr6:68751722..68754945-chr6:68760904..68763806,4	K562	blood:

Variant related genes	Relation type
ENSG00000223504	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199788643	chr6:68760892-68760893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114564196	chr6:68760927-68760928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115120973	chr6:68760939-68760940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566682593	chr6:68760940-68760941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189415148	chr6:68761032-68761033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549197149	chr6:68761176-68761177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11961475	chr6:68761191-68761192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150699400	chr6:68761201-68761202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571366045	chr6:68761202-68761203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370572784	chr6:68761203-68761204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71534858	chr6:68761320-68761321	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs71534859	chr6:68761322-68761323	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201614006	chr6:68761373-68761374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537714327	chr6:68761375-68761376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550973147	chr6:68761384-68761385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367803411	chr6:68761400-68761401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201604789	chr6:68761423-68761424	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201230312	chr6:68761427-68761428	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199816349	chr6:68761434-68761435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs62412570	chr6:68761439-68761440	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs181421001	chr6:68761445-68761446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs539931579	chr6:68761447-68761448	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs70983875	chr6:68761449-68761450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs62412571	chr6:68761452-68761453	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62412572	chr6:68761454-68761455	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368567583	chr6:68761458-68761459	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372599041	chr6:68761459-68761460	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112182959	chr6:68761464-68761465	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs67521336	chr6:68761475-68761476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200909356	chr6:68761507-68761508	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557294084	chr6:68761641-68761642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572995036	chr6:68761651-68761652	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570275683	chr6:68761653-68761654	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535678648	chr6:68761654-68761655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543559344	chr6:68761657-68761658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375822226	chr6:68761709-68761710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189097842	chr6:68761805-68761806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536022895	chr6:68761815-68761816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564114026	chr6:68761852-68761853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577529358	chr6:68761861-68761862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540214515	chr6:68761879-68761880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181483969	chr6:68761884-68761885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77754653	chr6:68761897-68761898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540903532	chr6:68761964-68761965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7751480	chr6:68761973-68761974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375027369	chr6:68761994-68761995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562642870	chr6:68761998-68761999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531636638	chr6:68762000-68762001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551345441	chr6:68762006-68762007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571509085	chr6:68762013-68762014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68751000-68770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:68759200-68763600	Weak transcription	K562	blood
3	chr6:68759200-68769200	Weak transcription	Fetal Brain Male	brain

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