Variant report

Variant	esv3474571
Chromosome Location	chr6:77438233-77445531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528513396	chr6:77439211-77439212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112962681	chr6:77439231-77439232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565005045	chr6:77439264-77439265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs4333377	chr6:77439306-77439307	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556284811	chr6:77439327-77439328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2085553	chr6:77439341-77439342	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529809408	chr6:77439377-77439378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548344415	chr6:77439382-77439383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs536170067	chr6:77439393-77439394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs566460624	chr6:77439397-77439398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112535369	chr6:77439404-77439405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535585610	chr6:77439421-77439422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552170113	chr6:77439427-77439428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571811978	chr6:77439431-77439432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111807323	chr6:77439475-77439476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544551524	chr6:77439495-77439496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs9447754	chr6:77439497-77439498	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575476266	chr6:77439514-77439515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536334218	chr6:77439518-77439519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2004872	chr6:77439523-77439524	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573309668	chr6:77439526-77439527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs71541138	chr6:77439587-77439588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs13206329	chr6:77439588-77439589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577018334	chr6:77439591-77439592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370482157	chr6:77439592-77439593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2004871	chr6:77439615-77439616	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562662980	chr6:77439625-77439626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561553920	chr6:77439626-77439627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529949675	chr6:77439631-77439632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548284283	chr6:77439650-77439651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2004870	chr6:77439651-77439652	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527394337	chr6:77439699-77439700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551844696	chr6:77439700-77439701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1809246	chr6:77439736-77439737	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538939758	chr6:77439751-77439752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs114528932	chr6:77439753-77439754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs114885806	chr6:77439769-77439770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536423595	chr6:77439805-77439806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181771316	chr6:77439812-77439813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112579852	chr6:77439813-77439814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184777053	chr6:77439833-77439834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4348275	chr6:77439868-77439869	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188059629	chr6:77439870-77439871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112065728	chr6:77439904-77439905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181026598	chr6:77439910-77439911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562798915	chr6:77439927-77439928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574803101	chr6:77439939-77439940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs137903486	chr6:77439940-77439941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571549518	chr6:77439952-77439953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs752750	chr6:77439969-77439970	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77439200-77441000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:77443200-77443600	Active TSS	Aorta	Aorta

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