Variant report

Variant	esv1002545
Chromosome Location	chr6:66258736-66262125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331197	chr6:66258778-66258779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530909742	chr6:66258779-66258780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550703996	chr6:66258805-66258806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570472322	chr6:66258827-66258828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535147802	chr6:66258860-66258861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544205298	chr6:66258900-66258901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151132398	chr6:66258907-66258908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553605179	chr6:66258919-66258920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567069581	chr6:66258922-66258923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536182899	chr6:66258929-66258930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193172846	chr6:66258947-66258948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575955089	chr6:66258949-66258950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543532222	chr6:66258950-66258951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9363392	chr6:66258951-66258952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576858578	chr6:66259016-66259017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140109105	chr6:66259017-66259018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559564175	chr6:66259042-66259043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573037084	chr6:66259079-66259080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542154329	chr6:66259108-66259109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35788927	chr6:66259180-66259181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574305760	chr6:66259187-66259188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200749446	chr6:66259216-66259217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76838586	chr6:66259218-66259219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386702136	chr6:66259221-66259222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369857325	chr6:66259224-66259225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145147854	chr6:66259245-66259246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558303330	chr6:66259259-66259260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60828468	chr6:66259270-66259271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533123943	chr6:66259277-66259278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7767793	chr6:66259309-66259310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185307743	chr6:66259331-66259332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6937452	chr6:66259358-66259359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549689255	chr6:66259374-66259375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371808890	chr6:66259376-66259377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6937478	chr6:66259410-66259411	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6455046	chr6:66259421-66259422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190549696	chr6:66259437-66259438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182331613	chr6:66259455-66259456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6932966	chr6:66259508-66259509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566792726	chr6:66259513-66259514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6909711	chr6:66259537-66259538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6455047	chr6:66259546-66259547	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116495221	chr6:66259615-66259616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139032003	chr6:66259671-66259672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9354264	chr6:66259713-66259714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183751399	chr6:66259741-66259742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369809047	chr6:66259742-66259743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140656984	chr6:66259751-66259752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547119691	chr6:66259757-66259758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560275365	chr6:66259761-66259762	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66257000-66258800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:66257400-66260000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:66258400-66259000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:66258600-66260000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:66258800-66259200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:66258800-66260000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:66259200-66259600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:66259600-66259800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:66259800-66267200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:66260000-66262200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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