Variant report

Variant	esv3475233
Chromosome Location	chr6:141001609-141004957
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	E2F4	chr6:141001741-141001941	MCF10A-Er-Src	breast:	n/a	n/a
3	MAZ	chr6:141001644-141001795	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MIR4465	TF binding region

Extended variants
information (count: 213 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567841971	chr6:141001656-141001657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529440631	chr6:141001671-141001672	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550804531	chr6:141001673-141001674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569169639	chr6:141001697-141001698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539574088	chr6:141001735-141001736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs9495802	chr6:141001757-141001758	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546553384	chr6:141001817-141001818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138767850	chr6:141001835-141001836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188923084	chr6:141001880-141001881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs141380473	chr6:141001882-141001883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371518121	chr6:141001889-141001890	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533972709	chr6:141001905-141001906	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs572681239	chr6:141001907-141001908	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs555877520	chr6:141001963-141001964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192409463	chr6:141001965-141001966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542003533	chr6:141001971-141001972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552758342	chr6:141001994-141001995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557195688	chr6:141002018-141002019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183917015	chr6:141002053-141002054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7745347	chr6:141002059-141002060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139064072	chr6:141002064-141002065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549535217	chr6:141002078-141002079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528065351	chr6:141002087-141002088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186750853	chr6:141002090-141002091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553439983	chr6:141002100-141002101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539249205	chr6:141002113-141002114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201579257	chr6:141002114-141002115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78890915	chr6:141002116-141002117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555384493	chr6:141002127-141002128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539893000	chr6:141002146-141002147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377255273	chr6:141002150-141002151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371901785	chr6:141002163-141002164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111218821	chr6:141002165-141002166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36189491	chr6:141002171-141002172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375361304	chr6:141002186-141002187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528966723	chr6:141002187-141002188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372713394	chr6:141002188-141002189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550718402	chr6:141002197-141002198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191938693	chr6:141002202-141002203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533424416	chr6:141002207-141002208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113768331	chr6:141002215-141002216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71562555	chr6:141002223-141002224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552034982	chr6:141002233-141002234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202219474	chr6:141002240-141002241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370518488	chr6:141002253-141002254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376590570	chr6:141002261-141002262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373808696	chr6:141002278-141002279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372240516	chr6:141002291-141002292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372005221	chr6:141002299-141002300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567081582	chr6:141002362-141002363	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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