Variant report

Variant	esv3421036
Chromosome Location	chr6:65699081-65700279
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	chr6:65695796..65698770-chr6:65700016..65702026,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553375372	chr6:65699082-65699083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149998174	chr6:65699101-65699102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9345578	chr6:65699119-65699120	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373148243	chr6:65699196-65699197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146584388	chr6:65699199-65699200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190925969	chr6:65699204-65699205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71553508	chr6:65699286-65699287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67811515	chr6:65699288-65699289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72077653	chr6:65699299-65699300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183192300	chr6:65699309-65699310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13205619	chr6:65699310-65699311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2349997	chr6:65699311-65699312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141186637	chr6:65699312-65699313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372288581	chr6:65699356-65699357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549850886	chr6:65699375-65699376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188073748	chr6:65699466-65699467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145020013	chr6:65699490-65699491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552728149	chr6:65699505-65699506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546902805	chr6:65699516-65699517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565319078	chr6:65699664-65699665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138879468	chr6:65699693-65699694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3033931	chr6:65699694-65699695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9345579	chr6:65699696-65699697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540972262	chr6:65699717-65699718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs70999183	chr6:65699719-65699720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9345580	chr6:65699723-65699724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369984295	chr6:65699725-65699726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9354198	chr6:65699727-65699728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66591902	chr6:65699781-65699782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548263297	chr6:65699834-65699835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138747548	chr6:65699852-65699853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537158452	chr6:65699868-65699869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538108612	chr6:65699876-65699877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2349996	chr6:65699896-65699897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570682322	chr6:65699929-65699930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80151524	chr6:65700040-65700041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553338758	chr6:65700050-65700051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148915275	chr6:65700063-65700064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542293108	chr6:65700088-65700089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555822985	chr6:65700130-65700131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568218418	chr6:65700231-65700232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575610744	chr6:65700262-65700263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65697600-65700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:65698200-65699200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:65698200-65705000	Weak transcription	Pancreas	Pancrea
4	chr6:65699000-65699200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:65699000-65700400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:65700000-65700400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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