Variant report

Variant	esv3471914
Chromosome Location	chr6:141002484-141005632
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	CTCF	chr6:141004780-141004930	Caco-2	colon:	n/a	n/a
2	POLR2A	chr6:141005054-141005216	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:141005070-141005121	MCF10A-Er-Src	breast:	n/a	n/a

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4465	chr6:141004992-141005013	MIMAT0018992

Variant related genes	Relation type
MIR4465	TF binding region

Extended variants
information (count: 175 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370824817	chr6:141002486-141002487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111218880	chr6:141002487-141002488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370932021	chr6:141002493-141002494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368791711	chr6:141002505-141002506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147168825	chr6:141002524-141002525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374299479	chr6:141002542-141002543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557158910	chr6:141002554-141002555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190013439	chr6:141002561-141002562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193037119	chr6:141002567-141002568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140034657	chr6:141002579-141002580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185632981	chr6:141002598-141002599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371769342	chr6:141002604-141002605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200710404	chr6:141002616-141002617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545704589	chr6:141002628-141002629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190740727	chr6:141002635-141002636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111218866	chr6:141002653-141002654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181833667	chr6:141002665-141002666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534821355	chr6:141002670-141002671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373698313	chr6:141002671-141002672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563060452	chr6:141002682-141002683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13212886	chr6:141002688-141002689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185240197	chr6:141002700-141002701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202047768	chr6:141002725-141002726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561351532	chr6:141002726-141002727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528930009	chr6:141002737-141002738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543921570	chr6:141002744-141002745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369372407	chr6:141002750-141002751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200168579	chr6:141002774-141002775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201632391	chr6:141002811-141002812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200015880	chr6:141002848-141002849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200883629	chr6:141002885-141002886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533548834	chr6:141002893-141002894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370882900	chr6:141002897-141002898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188152108	chr6:141002910-141002911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560830842	chr6:141002912-141002913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151246111	chr6:141002922-141002923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181222319	chr6:141002929-141002930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140452168	chr6:141002930-141002931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538277032	chr6:141002934-141002935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186341706	chr6:141002945-141002946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150417439	chr6:141002965-141002966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191651599	chr6:141002969-141002970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111218769	chr6:141003000-141003001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62647348	chr6:141003004-141003005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186670979	chr6:141003035-141003036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557680086	chr6:141003047-141003048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573048611	chr6:141003048-141003049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201917453	chr6:141003070-141003071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533859214	chr6:141003074-141003075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199953663	chr6:141003105-141003106	Weak transcription	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
Hodgkin''s lymphoma	18641027	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140993200-141015400	Weak transcription	Placenta	Placenta
2	chr6:141004800-141005000	Enhancers	Esophagus	oesophagus

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