Variant report

Variant	esv2592771
Chromosome Location	chr6:128857347-128858775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128840314..128843988-chr6:128855468..128857809,4	MCF-7	breast:
2	chr6:128848166..128851056-chr6:128858562..128860170,2	MCF-7	breast:
3	chr6:128858016..128860798-chr6:128866625..128868395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152894	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548139239	chr6:128857436-128857437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559781822	chr6:128857453-128857454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143423480	chr6:128857462-128857463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551682683	chr6:128857479-128857480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148170696	chr6:128857495-128857496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60646645	chr6:128857503-128857504	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371926941	chr6:128857566-128857567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6569532	chr6:128857651-128857652	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141984625	chr6:128857652-128857653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184111253	chr6:128857673-128857674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186611017	chr6:128857812-128857813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80119312	chr6:128857822-128857823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76363128	chr6:128857823-128857824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12524115	chr6:128857842-128857843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115486191	chr6:128857865-128857866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191397085	chr6:128857869-128857870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572244383	chr6:128857894-128857895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183950398	chr6:128857895-128857896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188383122	chr6:128857938-128857939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557627108	chr6:128858022-128858023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576102836	chr6:128858037-128858038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146146015	chr6:128858044-128858045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561746006	chr6:128858048-128858049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573715377	chr6:128858051-128858052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192918976	chr6:128858063-128858064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560041719	chr6:128858089-128858090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533415922	chr6:128858106-128858107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551963229	chr6:128858130-128858131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563698483	chr6:128858234-128858235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530935631	chr6:128858287-128858288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549097797	chr6:128858319-128858320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567410685	chr6:128858323-128858324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534740832	chr6:128858350-128858351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117271816	chr6:128858374-128858375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565974316	chr6:128858380-128858381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140147400	chr6:128858399-128858400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563937471	chr6:128858407-128858408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576187527	chr6:128858492-128858493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142134209	chr6:128858509-128858510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185057273	chr6:128858546-128858547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117739319	chr6:128858588-128858589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370182317	chr6:128858589-128858590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572614891	chr6:128858592-128858593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541033129	chr6:128858614-128858615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146346066	chr6:128858617-128858618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139570665	chr6:128858623-128858624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190290926	chr6:128858658-128858659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201342933	chr6:128858662-128858663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182021754	chr6:128858717-128858718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186521153	chr6:128858727-128858728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128844000-128859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:128854400-128858800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:128854400-128858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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