Variant report

Variant	esv3338690
Chromosome Location	chr6:132013459-132014857
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	chr6:131965455..131967671-chr6:132014535..132016282,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547897645	chr6:132013468-132013469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144596860	chr6:132013471-132013472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs533548292	chr6:132013545-132013546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183730416	chr6:132013584-132013585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576746740	chr6:132013585-132013586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539345282	chr6:132013590-132013591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557585960	chr6:132013596-132013597	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73001214	chr6:132013630-132013631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575810470	chr6:132013631-132013632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186187857	chr6:132013739-132013740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148493544	chr6:132013777-132013778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573419704	chr6:132013791-132013792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13209158	chr6:132013830-132013831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368334666	chr6:132013834-132013835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201952088	chr6:132013838-132013839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs364964	chr6:132013856-132013857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540718400	chr6:132013877-132013878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565315983	chr6:132013909-132013910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527601184	chr6:132013941-132013942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552160924	chr6:132013947-132013948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201955563	chr6:132013964-132013965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202129846	chr6:132013987-132013988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111218831	chr6:132014045-132014046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549905188	chr6:132014049-132014050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568214970	chr6:132014093-132014094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200237284	chr6:132014120-132014121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78433654	chr6:132014124-132014125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13193484	chr6:132014150-132014151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12523976	chr6:132014185-132014186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532384101	chr6:132014199-132014200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111734328	chr6:132014203-132014204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553322229	chr6:132014258-132014259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200444403	chr6:132014259-132014260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535684751	chr6:132014275-132014276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191413338	chr6:132014277-132014278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547936520	chr6:132014301-132014302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566327650	chr6:132014303-132014304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572517749	chr6:132014337-132014338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533674505	chr6:132014353-132014354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142260471	chr6:132014367-132014368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570448417	chr6:132014374-132014375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537408400	chr6:132014376-132014377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557641766	chr6:132014385-132014386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573634513	chr6:132014454-132014455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3841511	chr6:132014471-132014472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563869861	chr6:132014478-132014479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182821223	chr6:132014505-132014506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555240658	chr6:132014532-132014533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573460760	chr6:132014552-132014553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76092737	chr6:132014605-132014606	Weak transcription Enhancers Strong transcription	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:29 , 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	chr6:132008400-132013600	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:132009800-132014400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:132009800-132014600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:132009800-132014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:132010000-132014600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:132010400-132014800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:132012200-132014600	Weak transcription	HepG2	liver
15	chr6:132012200-132017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:132013000-132013600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr6:132013400-132013800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:132013600-132016200	Enhancers	Primary B cells from cord blood	blood
19	chr6:132013800-132014200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:132014200-132015800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:132014400-132015200	Enhancers	Liver	Liver
22	chr6:132014400-132015400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:132014400-132015400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:132014600-132015400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:132014600-132015600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:132014600-132016000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:132014600-132019400	Strong transcription	HepG2	liver
28	chr6:132014800-132015200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:132014800-132015600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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