Variant report

Variant	esv3411896
Chromosome Location	chr6:132012934-132015307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132015065..132016761-chr6:132065945..132068393,2	K562	blood:
2	chr6:132007332..132009041-chr6:132015162..132016904,2	K562	blood:
3	chr6:131965455..131967671-chr6:132014535..132016282,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535971263	chr6:132012954-132012955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564725021	chr6:132012958-132012959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145975043	chr6:132012959-132012960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181823317	chr6:132013011-132013012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563939276	chr6:132013035-132013036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575727272	chr6:132013045-132013046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9398992	chr6:132013046-132013047	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs118101571	chr6:132013065-132013066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533224806	chr6:132013075-132013076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141753203	chr6:132013097-132013098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75775796	chr6:132013112-132013113	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187587014	chr6:132013137-132013138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191468730	chr6:132013169-132013170	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532479459	chr6:132013217-132013218	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201961172	chr6:132013223-132013224	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550587926	chr6:132013237-132013238	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539348140	chr6:132013259-132013260	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569064454	chr6:132013299-132013300	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536034377	chr6:132013327-132013328	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547897645	chr6:132013468-132013469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144596860	chr6:132013471-132013472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533548292	chr6:132013545-132013546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183730416	chr6:132013584-132013585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576746740	chr6:132013585-132013586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539345282	chr6:132013590-132013591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557585960	chr6:132013596-132013597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73001214	chr6:132013630-132013631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575810470	chr6:132013631-132013632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186187857	chr6:132013739-132013740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148493544	chr6:132013777-132013778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573419704	chr6:132013791-132013792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13209158	chr6:132013830-132013831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368334666	chr6:132013834-132013835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201952088	chr6:132013838-132013839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs364964	chr6:132013856-132013857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540718400	chr6:132013877-132013878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565315983	chr6:132013909-132013910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527601184	chr6:132013941-132013942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552160924	chr6:132013947-132013948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201955563	chr6:132013964-132013965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202129846	chr6:132013987-132013988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111218831	chr6:132014045-132014046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549905188	chr6:132014049-132014050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568214970	chr6:132014093-132014094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200237284	chr6:132014120-132014121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78433654	chr6:132014124-132014125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13193484	chr6:132014150-132014151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12523976	chr6:132014185-132014186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532384101	chr6:132014199-132014200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111734328	chr6:132014203-132014204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131993600-132020600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:131998600-132054000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:131998800-132043000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:131999200-132017600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:131999400-132020600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:132000000-132014400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:132002600-132054400	Weak transcription	K562	blood
8	chr6:132008200-132013000	Enhancers	Primary B cells from cord blood	blood
9	chr6:132008400-132013600	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:132009800-132013200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:132009800-132014400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:132009800-132014600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:132009800-132014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:132010000-132014600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:132010400-132014800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:132012200-132014600	Weak transcription	HepG2	liver
17	chr6:132012200-132017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:132012800-132013400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:132013000-132013600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:132013400-132013800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:132013600-132016200	Enhancers	Primary B cells from cord blood	blood
22	chr6:132013800-132014200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:132014200-132015800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:132014400-132015200	Enhancers	Liver	Liver
25	chr6:132014400-132015400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:132014400-132015400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:132014600-132015400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:132014600-132015600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:132014600-132016000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:132014600-132019400	Strong transcription	HepG2	liver
31	chr6:132014800-132015200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:132014800-132015600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:132015200-132018400	Weak transcription	H9 Cell Line	embryonic stem cell

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