Variant report

Variant	esv3424838
Chromosome Location	chr6:163426212-163428410
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	chr6:163426091..163427659-chr6:163429418..163431049,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563142301	chr6:163426234-163426235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576731625	chr6:163426241-163426242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542365586	chr6:163426383-163426384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533881790	chr6:163426441-163426442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112428951	chr6:163426499-163426500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561640976	chr6:163426525-163426526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558682489	chr6:163426574-163426575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576987934	chr6:163426632-163426633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540768146	chr6:163426688-163426689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115701881	chr6:163426694-163426695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116160574	chr6:163426707-163426708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28796392	chr6:163426809-163426810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10945871	chr6:163426813-163426814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs28827813	chr6:163426823-163426824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569586136	chr6:163426826-163426827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34348407	chr6:163426834-163426835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549120870	chr6:163426841-163426842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28875282	chr6:163426869-163426870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200147026	chr6:163426897-163426898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556221445	chr6:163426906-163426907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574482684	chr6:163426907-163426908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550831853	chr6:163426953-163426954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2182052	chr6:163426968-163426969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113070037	chr6:163426970-163426971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28773486	chr6:163426988-163426989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201531726	chr6:163427038-163427039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539816021	chr6:163427052-163427053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183442481	chr6:163427113-163427114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536030611	chr6:163427123-163427124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572168959	chr6:163427145-163427146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555487750	chr6:163427157-163427158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28850392	chr6:163427182-163427183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576638796	chr6:163427208-163427209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542151592	chr6:163427232-163427233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60194556	chr6:163427238-163427239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3058703	chr6:163427242-163427243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201261461	chr6:163427243-163427244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397768522	chr6:163427254-163427255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12175216	chr6:163427256-163427257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2147654	chr6:163427289-163427290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541153857	chr6:163427357-163427358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563801271	chr6:163427367-163427368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144743667	chr6:163427369-163427370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58059652	chr6:163427406-163427407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563251510	chr6:163427504-163427505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529226363	chr6:163427538-163427539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11962083	chr6:163427541-163427542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9458711	chr6:163427568-163427569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528240042	chr6:163427624-163427625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61354059	chr6:163427660-163427661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Chordoma	18071362	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
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163421400-163429600	Weak transcription	Pancreas	Pancrea
2	chr6:163428400-163428800	Enhancers	Brain Cingulate Gyrus	brain
3	chr6:163428400-163429200	Enhancers	Brain Hippocampus Middle	brain
4	chr6:163428400-163429800	Enhancers	Cortex derived primary cultured neurospheres	brain

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