Variant report

Variant	esv3452207
Chromosome Location	chr6:65681881-65687579
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	CEBPB	chr6:65681969-65682239	HepG2	liver:	n/a	chr6:65682126-65682137 chr6:65682100-65682111
2	JUN	chr6:65683105-65683310	HepG2	liver:	n/a	n/a
3	JUND	chr6:65683064-65683373	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:65683348-65683358	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr6:65686244-65686283	K562	blood:	n/a	n/a
6	STAT3	chr6:65682094-65682224	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr6:65684487-65684821	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000221312	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs561808817	chr6:65681893-65681894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573943661	chr6:65681910-65681911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182882262	chr6:65681928-65681929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562619327	chr6:65681936-65681937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527522065	chr6:65681969-65681970	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs141124462	chr6:65681994-65681995	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545187454	chr6:65682056-65682057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150243339	chr6:65682057-65682058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527902589	chr6:65682083-65682084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188340784	chr6:65682099-65682100	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190355983	chr6:65682100-65682101	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs182906993	chr6:65682114-65682115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548751333	chr6:65682121-65682122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138871301	chr6:65682160-65682161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577672493	chr6:65682201-65682202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528895717	chr6:65682237-65682238	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547106901	chr6:65682321-65682322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34346075	chr6:65682346-65682347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571436810	chr6:65682408-65682409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149405055	chr6:65682485-65682486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554016851	chr6:65682488-65682489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369752227	chr6:65682587-65682588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117512234	chr6:65682639-65682640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536645925	chr6:65682653-65682654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147476315	chr6:65682659-65682660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187539936	chr6:65682682-65682683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545071032	chr6:65682698-65682699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10485054	chr6:65682721-65682722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368558032	chr6:65682768-65682769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549724278	chr6:65682770-65682771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572585617	chr6:65682778-65682779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192490742	chr6:65682816-65682817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561625156	chr6:65682890-65682891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530369011	chr6:65682911-65682912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551677951	chr6:65682952-65682953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371213691	chr6:65682970-65682971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569465185	chr6:65682976-65682977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10485053	chr6:65682993-65682994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117362301	chr6:65683002-65683003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185859243	chr6:65683003-65683004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187552580	chr6:65683029-65683030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571398531	chr6:65683049-65683050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527458168	chr6:65683114-65683115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs9363301	chr6:65683160-65683161	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76763805	chr6:65683165-65683166	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115837179	chr6:65683172-65683173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368411798	chr6:65683184-65683185	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553123965	chr6:65683199-65683200	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577981669	chr6:65683204-65683205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376435552	chr6:65683206-65683207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65679000-65697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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