Variant report

Variant	esv2750777
Chromosome Location	chr6:161010822-161021941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
2	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:

Extended variants
information (count: 592 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181215991	chr6:161010853-161010854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367633810	chr6:161010900-161010901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144322028	chr6:161010904-161010905	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529478664	chr6:161010922-161010923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542953094	chr6:161010926-161010927	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185607425	chr6:161010949-161010950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559667624	chr6:161010988-161010989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573180689	chr6:161011070-161011071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369721895	chr6:161011085-161011086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188902930	chr6:161011133-161011134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117935574	chr6:161011137-161011138	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532953383	chr6:161011147-161011148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111435452	chr6:161011154-161011155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115281078	chr6:161011155-161011156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529146302	chr6:161011178-161011179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549022857	chr6:161011181-161011182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565642190	chr6:161011186-161011187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528102982	chr6:161011193-161011194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551485431	chr6:161011194-161011195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539693931	chr6:161011210-161011211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571404620	chr6:161011235-161011236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552898680	chr6:161011259-161011260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569526462	chr6:161011284-161011285	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181711189	chr6:161011288-161011289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539743642	chr6:161011291-161011292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557540968	chr6:161011299-161011300	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567865756	chr6:161011302-161011303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528794503	chr6:161011307-161011308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185882981	chr6:161011320-161011321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377709279	chr6:161011326-161011327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192129286	chr6:161011336-161011337	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553420450	chr6:161011365-161011366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151289870	chr6:161011372-161011373	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs41272072	chr6:161011409-161011410	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs41272070	chr6:161011411-161011412	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183954374	chr6:161011424-161011425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535283277	chr6:161011431-161011432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112928234	chr6:161011438-161011439	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563107766	chr6:161011470-161011471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547325034	chr6:161011559-161011560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529097221	chr6:161011599-161011600	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555548781	chr6:161011678-161011679	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373512831	chr6:161011681-161011682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185979314	chr6:161011730-161011731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559421449	chr6:161011741-161011742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575390120	chr6:161011747-161011748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528078030	chr6:161011766-161011767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs41272068	chr6:161011789-161011790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571264313	chr6:161011792-161011793	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190900874	chr6:161011803-161011804	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Carotid artery disease	21127300	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161009000-161019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161017600-161018200	Active TSS	Aorta	Aorta
4	chr6:161018200-161018600	Enhancers	Aorta	Aorta
5	chr6:161019200-161022200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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