Variant report

Variant	esv3391376
Chromosome Location	chr6:77766133-77769631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186782517	chr6:77768422-77768423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191572627	chr6:77768441-77768442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115730714	chr6:77768447-77768448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369114533	chr6:77768464-77768465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560395384	chr6:77768485-77768486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35131235	chr6:77768523-77768524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184219218	chr6:77768527-77768528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9361185	chr6:77768529-77768530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575354013	chr6:77768559-77768560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570858443	chr6:77768603-77768604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531587909	chr6:77768613-77768614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536909167	chr6:77768647-77768648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555147056	chr6:77768654-77768655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567974621	chr6:77768657-77768658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73465258	chr6:77768668-77768669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553904616	chr6:77768677-77768678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186205121	chr6:77768709-77768710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12527884	chr6:77768749-77768750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557561648	chr6:77768751-77768752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576037452	chr6:77768758-77768759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536999825	chr6:77768781-77768782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373911418	chr6:77768786-77768787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534502237	chr6:77768800-77768801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73465263	chr6:77768824-77768825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6937055	chr6:77768886-77768887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149591778	chr6:77768905-77768906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572532048	chr6:77768942-77768943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113722422	chr6:77768974-77768975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572419796	chr6:77768986-77768987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564419576	chr6:77768999-77769000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531607934	chr6:77769007-77769008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386702870	chr6:77769039-77769040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147270462	chr6:77769040-77769041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78881341	chr6:77769077-77769078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139087841	chr6:77769079-77769080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35763762	chr6:77769088-77769089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142973373	chr6:77769091-77769092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539255748	chr6:77769167-77769168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551460551	chr6:77769185-77769186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147544669	chr6:77769212-77769213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140204190	chr6:77769236-77769237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555371563	chr6:77769241-77769242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573654264	chr6:77769242-77769243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142959425	chr6:77769282-77769283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554159203	chr6:77769298-77769299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572645789	chr6:77769305-77769306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182117535	chr6:77769312-77769313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187061501	chr6:77769314-77769315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576811961	chr6:77769320-77769321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6914884	chr6:77769326-77769327	Weak transcription	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77768400-77773200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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