Variant report

Variant	esv3367046
Chromosome Location	chr6:69771492-69772889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567275287	chr6:69771493-69771494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536568926	chr6:69771511-69771512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187107399	chr6:69771522-69771523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570262741	chr6:69771560-69771561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190459382	chr6:69771574-69771575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs779017	chr6:69771582-69771583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572058757	chr6:69771637-69771638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534661184	chr6:69771649-69771650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200177222	chr6:69771665-69771666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145157865	chr6:69771671-69771672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554628688	chr6:69771683-69771684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574452953	chr6:69771687-69771688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71555401	chr6:69771701-69771702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563415147	chr6:69771710-69771711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569390714	chr6:69771739-69771740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139468186	chr6:69771744-69771745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368482432	chr6:69771762-69771763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62416806	chr6:69771765-69771766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144208239	chr6:69771781-69771782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527786249	chr6:69771794-69771795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547456432	chr6:69771798-69771799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151054438	chr6:69771799-69771800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549157011	chr6:69771905-69771906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183438523	chr6:69771943-69771944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187762015	chr6:69771983-69771984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200249523	chr6:69771997-69771998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs680726	chr6:69772098-69772099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530562024	chr6:69772110-69772111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539281812	chr6:69772111-69772112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141002428	chr6:69772138-69772139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566237624	chr6:69772167-69772168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75492876	chr6:69772172-69772173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149806128	chr6:69772229-69772230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574513789	chr6:69772287-69772288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537041148	chr6:69772339-69772340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557262556	chr6:69772390-69772391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535027784	chr6:69772391-69772392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12215081	chr6:69772394-69772395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546030679	chr6:69772400-69772401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190723499	chr6:69772402-69772403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572665124	chr6:69772403-69772404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573445520	chr6:69772435-69772436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541159376	chr6:69772440-69772441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59831359	chr6:69772453-69772454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9294818	chr6:69772468-69772469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543439948	chr6:69772480-69772481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563657265	chr6:69772491-69772492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539012968	chr6:69772538-69772539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182900555	chr6:69772571-69772572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552804245	chr6:69772618-69772619	Weak transcription	n/a	n/a	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
Prostate cancer	16573809	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
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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69753600-69794800	Weak transcription	Fetal Lung	lung
2	chr6:69760400-69800200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69770000-69775000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:69771000-69772200	Weak transcription	Brain Germinal Matrix	brain
5	chr6:69771400-69776400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:69772200-69772400	Enhancers	Brain Germinal Matrix	brain

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