Variant report

Variant	esv3403935
Chromosome Location	chr6:92421631-92422879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137999572	chr6:92421631-92421632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567055898	chr6:92421632-92421633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs609383	chr6:92421657-92421658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182290462	chr6:92421680-92421681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186560857	chr6:92421709-92421710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149478836	chr6:92421719-92421720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555006735	chr6:92421731-92421732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190947699	chr6:92421796-92421797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576732811	chr6:92421841-92421842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111578602	chr6:92421877-92421878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73754101	chr6:92421888-92421889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574875846	chr6:92421894-92421895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573003675	chr6:92421923-92421924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536443035	chr6:92421928-92421929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541616914	chr6:92421947-92421948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555805511	chr6:92421954-92421955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575083	chr6:92421956-92421957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559688	chr6:92421958-92421959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564526291	chr6:92421960-92421961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533127025	chr6:92421974-92421975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547277945	chr6:92422049-92422050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567041494	chr6:92422079-92422080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536100767	chr6:92422133-92422134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183092333	chr6:92422142-92422143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549578577	chr6:92422203-92422204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374642267	chr6:92422220-92422221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188381730	chr6:92422240-92422241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573087659	chr6:92422306-92422307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545296131	chr6:92422323-92422324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556755388	chr6:92422450-92422451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576776838	chr6:92422478-92422479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193199535	chr6:92422525-92422526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35464238	chr6:92422568-92422569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539022861	chr6:92422573-92422574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553274042	chr6:92422631-92422632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572799595	chr6:92422632-92422633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541655886	chr6:92422712-92422713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561559519	chr6:92422733-92422734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575067301	chr6:92422742-92422743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141705375	chr6:92422743-92422744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185120239	chr6:92422766-92422767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560438725	chr6:92422775-92422776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188390747	chr6:92422797-92422798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369810434	chr6:92422798-92422799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7751352	chr6:92422832-92422833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs478536	chr6:92422837-92422838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92418600-92424000	Weak transcription	HMEC	breast
2	chr6:92420600-92429400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:92422600-92423000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:92422800-92423000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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