Variant report

Variant	esv11882
Chromosome Location	chr6:133745934-133747363
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	chr6:133746912..133749125-chr6:133760477..133762589,2	K562	blood:

Variant related genes	Relation type
ENSG00000223542	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188592022	chr6:133745953-133745954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs538678597	chr6:133745954-133745955	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs9493620	chr6:133746011-133746012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542158481	chr6:133746016-133746017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57243011	chr6:133746040-133746041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527503917	chr6:133746069-133746070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149840822	chr6:133746086-133746087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564112124	chr6:133746121-133746122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35531766	chr6:133746184-133746185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533513734	chr6:133746238-133746239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563669986	chr6:133746243-133746244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549997312	chr6:133746246-133746247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145468604	chr6:133746248-133746249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193263709	chr6:133746252-133746253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549285537	chr6:133746253-133746254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367634553	chr6:133746275-133746276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185138468	chr6:133746280-133746281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552312133	chr6:133746301-133746302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148816155	chr6:133746316-133746317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370632821	chr6:133746404-133746405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142497557	chr6:133746442-133746443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6917488	chr6:133746497-133746498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1889946	chr6:133746544-133746545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11374264	chr6:133746575-133746576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9493621	chr6:133746589-133746590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373656213	chr6:133746601-133746602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575994586	chr6:133746608-133746609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150462	chr6:133746648-133746649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1889947	chr6:133746650-133746651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189040103	chr6:133746657-133746658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552061121	chr6:133746670-133746671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181132846	chr6:133746717-133746718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568885880	chr6:133746724-133746725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116735103	chr6:133746747-133746748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532942666	chr6:133746752-133746753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550250544	chr6:133746812-133746813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532055269	chr6:133746842-133746843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563602893	chr6:133746848-133746849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539389948	chr6:133746880-133746881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76390997	chr6:133746888-133746889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548997458	chr6:133746917-133746918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79774421	chr6:133746938-133746939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375974265	chr6:133746988-133746989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs3777849	chr6:133747025-133747026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571823595	chr6:133747056-133747057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537204906	chr6:133747078-133747079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556249374	chr6:133747080-133747081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576022477	chr6:133747089-133747090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114431344	chr6:133747110-133747111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76054319	chr6:133747111-133747112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133720200-133748400	Weak transcription	Hela-S3	cervix
2	chr6:133720400-133749600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:133726600-133752200	Weak transcription	Right Atrium	heart
4	chr6:133732600-133758200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:133736400-133752200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:133737400-133746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:133744000-133748000	Enhancers	Liver	Liver
8	chr6:133744400-133752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:133745000-133746200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:133745200-133746000	Enhancers	Gastric	stomach
11	chr6:133745200-133746000	Enhancers	Pancreas	Pancrea
12	chr6:133745400-133746000	Enhancers	Psoas Muscle	Psoas
13	chr6:133745400-133747400	Weak transcription	Right Ventricle	heart
14	chr6:133745600-133746000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr6:133745800-133748000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:133746000-133747000	Weak transcription	Psoas Muscle	Psoas
17	chr6:133746000-133747200	Weak transcription	Gastric	stomach
18	chr6:133746000-133753200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:133746800-133748200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:133747000-133748000	Enhancers	Psoas Muscle	Psoas
21	chr6:133747200-133747400	Enhancers	Gastric	stomach

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