Variant report

Variant	esv3359199
Chromosome Location	chr6:78961282-79039546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
2	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:
3	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:

Extended variants
information (count: 356 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77527457	chr6:78962611-78962612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7751252	chr6:78962626-78962627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191509991	chr6:78962641-78962642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531570396	chr6:78962686-78962687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535578731	chr6:78962761-78962762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184156395	chr6:78962766-78962767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565729273	chr6:78962779-78962780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534908963	chr6:78962785-78962786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188860090	chr6:78962816-78962817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577733206	chr6:78962837-78962838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543616776	chr6:78962839-78962840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556908661	chr6:78962919-78962920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193218073	chr6:78962941-78962942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73462149	chr6:78962958-78962959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559312022	chr6:78962960-78962961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528474291	chr6:78962975-78962976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567465915	chr6:78962979-78962980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565594310	chr6:78962994-78962995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140177722	chr6:78962995-78962996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77021805	chr6:78963034-78963035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530135241	chr6:78963035-78963036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16889801	chr6:78963048-78963049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183647471	chr6:78963086-78963087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186468732	chr6:78963163-78963164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7773984	chr6:78963168-78963169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs200816283	chr6:78963196-78963197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552861394	chr6:78963233-78963234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142998885	chr6:78963295-78963296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571049365	chr6:78963387-78963388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534616467	chr6:78963431-78963432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557731898	chr6:78963444-78963445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191851657	chr6:78963454-78963455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183921762	chr6:78963470-78963471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150608947	chr6:78963477-78963478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373286714	chr6:78963511-78963512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573539435	chr6:78963536-78963537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190354421	chr6:78963544-78963545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72890279	chr6:78963547-78963548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181814555	chr6:78963565-78963566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572875289	chr6:78963577-78963578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114681585	chr6:78963582-78963583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551216262	chr6:78974836-78974837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73764115	chr6:78974889-78974890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374485401	chr6:78974925-78974926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200681671	chr6:78974959-78974960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564180021	chr6:78974977-78974978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200065161	chr6:78974980-78974981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201155365	chr6:78974982-78974983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs398110333	chr6:78974986-78974987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533441122	chr6:78975002-78975003	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	21272361	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78962600-78963000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:78962600-78963000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:78962600-78963000	Enhancers	HMEC	breast
4	chr6:78962600-78963000	Enhancers	NHEK	skin
5	chr6:78962800-78963600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:78974800-78975200	Enhancers	Aorta	Aorta
7	chr6:78977000-78977400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:78977000-78977400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:78983200-78984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:78999800-79000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:79000000-79000400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:79010400-79011000	Enhancers	HMEC	breast
13	chr6:79011000-79012000	Weak transcription	HMEC	breast
14	chr6:79012200-79012400	Enhancers	HMEC	breast
15	chr6:79017800-79018000	ZNF genes & repeats	Aorta	Aorta
16	chr6:79018000-79020400	Weak transcription	Aorta	Aorta
17	chr6:79031400-79033200	Enhancers	Liver	Liver

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