Variant report

Variant	esv3339926
Chromosome Location	chr6:166701012-166703160
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	chr6:166698710..166701539-chr6:166750702..166753192,3	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368186793	chr6:166701017-166701018	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528271980	chr6:166701032-166701033	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546444578	chr6:166701048-166701049	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549633221	chr6:166701049-166701050	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371990114	chr6:166701053-166701054	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146917837	chr6:166701070-166701071	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535533100	chr6:166701071-166701072	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187007339	chr6:166701092-166701093	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147955068	chr6:166701094-166701095	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148997149	chr6:166701101-166701102	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs13216770	chr6:166701117-166701118	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534066753	chr6:166701131-166701132	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192897286	chr6:166701132-166701133	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369872102	chr6:166701136-166701137	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553382802	chr6:166701139-166701140	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565325204	chr6:166701141-166701142	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573422598	chr6:166701152-166701153	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534423851	chr6:166701165-166701166	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62439094	chr6:166701166-166701167	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376468387	chr6:166701174-166701175	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142571876	chr6:166701183-166701184	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562990660	chr6:166701190-166701191	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184540990	chr6:166701191-166701192	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187782031	chr6:166701198-166701199	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564422512	chr6:166701203-166701204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528348254	chr6:166701219-166701220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112925851	chr6:166701244-166701245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576177599	chr6:166701251-166701252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193135199	chr6:166701254-166701255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529450881	chr6:166701265-166701266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184586145	chr6:166701286-166701287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569304901	chr6:166701288-166701289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202222681	chr6:166701306-166701307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111997914	chr6:166701307-166701308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201451950	chr6:166701317-166701318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533350251	chr6:166701322-166701323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189031920	chr6:166701331-166701332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541997719	chr6:166701332-166701333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181379617	chr6:166701335-166701336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113220353	chr6:166701341-166701342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563902223	chr6:166701342-166701343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534183614	chr6:166701349-166701350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141963583	chr6:166701372-166701373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567755288	chr6:166701375-166701376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200266359	chr6:166701377-166701378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184026685	chr6:166701390-166701391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535201739	chr6:166701400-166701401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138651147	chr6:166701415-166701416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140636992	chr6:166701418-166701419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150476825	chr6:166701426-166701427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166687600-166704800	Weak transcription	Right Atrium	heart
2	chr6:166691200-166706000	Weak transcription	Brain Anterior Caudate	brain
3	chr6:166698400-166705800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:166700800-166701200	Enhancers	Primary B cells from cord blood	blood
5	chr6:166700800-166701200	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:166701000-166701200	Active TSS	GM12878-XiMat	blood

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