Variant report

Variant	esv3350139
Chromosome Location	chr6:102244709-102246807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35447305	chr6:102244728-102244729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149210109	chr6:102244732-102244733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143381125	chr6:102244785-102244786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539349490	chr6:102244848-102244849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183470430	chr6:102244875-102244876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75724488	chr6:102244884-102244885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187540517	chr6:102244910-102244911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556209516	chr6:102244914-102244915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141543551	chr6:102244917-102244918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541951287	chr6:102244948-102244949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147063591	chr6:102245056-102245057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542188461	chr6:102245088-102245089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117228692	chr6:102245098-102245099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200704367	chr6:102245140-102245141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541251315	chr6:102245161-102245162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546173160	chr6:102245177-102245178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564812386	chr6:102245216-102245217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74646706	chr6:102245250-102245251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191656295	chr6:102245268-102245269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532873343	chr6:102245282-102245283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543398223	chr6:102245325-102245326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568129633	chr6:102245352-102245353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528981242	chr6:102245357-102245358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563184482	chr6:102245378-102245379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138356980	chr6:102245469-102245470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12174427	chr6:102245526-102245527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150555096	chr6:102245535-102245536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551339202	chr6:102245560-102245561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36046531	chr6:102245561-102245562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66461483	chr6:102245562-102245563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200967073	chr6:102245563-102245564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374791575	chr6:102245564-102245565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536813876	chr6:102245565-102245566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397771398	chr6:102245568-102245569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138577245	chr6:102245594-102245595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200161601	chr6:102245623-102245624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149333257	chr6:102245655-102245656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184251790	chr6:102245755-102245756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554284919	chr6:102245784-102245785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186687560	chr6:102245822-102245823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546183967	chr6:102245866-102245867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113409551	chr6:102245945-102245946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576826285	chr6:102245969-102245970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146269891	chr6:102245975-102245976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562246055	chr6:102246027-102246028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139142701	chr6:102246083-102246084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9399731	chr6:102246103-102246104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559400077	chr6:102246115-102246116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532763203	chr6:102246123-102246124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9404147	chr6:102246129-102246130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

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
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
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
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
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102242600-102246000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:102243600-102246200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:102246000-102247600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:102246000-102247600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:102246200-102247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:102246400-102246800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:102246400-102246800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:102246400-102246800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:102246400-102247000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:102246400-102247600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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