Variant report

Variant	esv3365874
Chromosome Location	chr6:87326283-87328581
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	chr6:87321780..87323458-chr6:87325338..87327123,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145053900	chr6:87326285-87326286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540536589	chr6:87326346-87326347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113295811	chr6:87326369-87326370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376889626	chr6:87326385-87326386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561881484	chr6:87326408-87326409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73485617	chr6:87326409-87326410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117434600	chr6:87326415-87326416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565298812	chr6:87326418-87326419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375152794	chr6:87326431-87326432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199793807	chr6:87326468-87326469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571139758	chr6:87326471-87326472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562534021	chr6:87326509-87326510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533119383	chr6:87326542-87326543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552450772	chr6:87326547-87326548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74927406	chr6:87326556-87326557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184234604	chr6:87326558-87326559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534857458	chr6:87326560-87326561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369420719	chr6:87326591-87326592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376944939	chr6:87326626-87326627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565227095	chr6:87326736-87326737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568186613	chr6:87326753-87326754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535563998	chr6:87326756-87326757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557058944	chr6:87326762-87326763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575319779	chr6:87326764-87326765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545435044	chr6:87326771-87326772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77591926	chr6:87326785-87326786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189384269	chr6:87326788-87326789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs4627380	chr6:87326795-87326796	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181747410	chr6:87326814-87326815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4417569	chr6:87326827-87326828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185080507	chr6:87326842-87326843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544311570	chr6:87326855-87326856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562599217	chr6:87326856-87326857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530829949	chr6:87326873-87326874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4627381	chr6:87326966-87326967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73751080	chr6:87326985-87326986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367612651	chr6:87327045-87327046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180849495	chr6:87327056-87327057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186490093	chr6:87327057-87327058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147553843	chr6:87327069-87327070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115242854	chr6:87327098-87327099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550855662	chr6:87327185-87327186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372357579	chr6:87327186-87327187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61422550	chr6:87327208-87327209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374202966	chr6:87327210-87327211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55946126	chr6:87327212-87327213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368978725	chr6:87327213-87327214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60414849	chr6:87327216-87327217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4561487	chr6:87327218-87327219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9450488	chr6:87327220-87327221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	19490664	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87325600-87326600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87326600-87326800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:87326800-87329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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