Variant report

Variant	nsv462969
Chromosome Location	chr6:64971436-65018685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:64990450..64991143-chr6:65442394..65443437,5	MCF-7	breast:
2	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:
3	chr6:64968428..64970654-chr6:64971597..64973561,2	MCF-7	breast:
4	chr6:65006449..65008476-chr6:65012080..65014134,2	K562	blood:

Extended variants
information (count: 963 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9362651	chr6:64971436-64971437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73766031	chr6:64971486-64971487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568762457	chr6:64971493-64971494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536203518	chr6:64971553-64971554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557693475	chr6:64971554-64971555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185032396	chr6:64971586-64971587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9344936	chr6:64971602-64971603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143015451	chr6:64971605-64971606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114982454	chr6:64971623-64971624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535033591	chr6:64971643-64971644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117308907	chr6:64971653-64971654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55966462	chr6:64971681-64971682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79175659	chr6:64971691-64971692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398048590	chr6:64971692-64971693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199576015	chr6:64971693-64971694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2144229	chr6:64971726-64971727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369699221	chr6:64971737-64971738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73766032	chr6:64971752-64971753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2144230	chr6:64971821-64971822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562811555	chr6:64971835-64971836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532954748	chr6:64971856-64971857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564181398	chr6:64971877-64971878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2180038	chr6:64971885-64971886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559976962	chr6:64971892-64971893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577055585	chr6:64971904-64971905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2180039	chr6:64971929-64971930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370062625	chr6:64971936-64971937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34961237	chr6:64971955-64971956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537853324	chr6:64971975-64971976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9362652	chr6:64971994-64971995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6915053	chr6:64972003-64972004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77711081	chr6:64972048-64972049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11965960	chr6:64972075-64972076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573245923	chr6:64972097-64972098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545824931	chr6:64972104-64972105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190632694	chr6:64972122-64972123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555443999	chr6:64972168-64972169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6915412	chr6:64972225-64972226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544221083	chr6:64972229-64972230	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141093765	chr6:64972245-64972246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577901733	chr6:64972398-64972399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145163164	chr6:64972399-64972400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376460833	chr6:64972429-64972430	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs560340493	chr6:64972430-64972431	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532963071	chr6:64972431-64972432	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527483392	chr6:64972436-64972437	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs562655357	chr6:64972446-64972447	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs11966030	chr6:64972454-64972455	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs987041	chr6:64972455-64972456	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531308453	chr6:64972456-64972457	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164920	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
Bipolar disorder	19114987	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64960000-64972400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:64969400-64972400	Weak transcription	Stomach Mucosa	stomach
3	chr6:64970000-64972600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:64970000-64974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:64970200-64971800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:64970200-64972600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:64970200-64972600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:64970400-64972400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:64970400-64972400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:64970400-64972600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:64970400-64972800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:64971000-64973400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:64971600-64972000	Enhancers	Fetal Thymus	thymus
14	chr6:64971600-64972200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:64971600-64972200	Enhancers	GM12878-XiMat	blood
16	chr6:64971800-64972000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:64971800-64972200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:64972000-64972400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:64972200-64972400	Weak transcription	GM12878-XiMat	blood
20	chr6:64972200-64972800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:64972400-64972800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:64972400-64972800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:64972400-64972800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:64972400-64972800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:64972400-64972800	Active TSS	Fetal Lung	lung
26	chr6:64972400-64972800	Active TSS	HUVEC	blood vessel
27	chr6:64972400-64972800	Active TSS	NHEK	skin
28	chr6:64972400-64973000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:64972400-64973000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:64972400-64973000	Enhancers	Stomach Mucosa	stomach
31	chr6:64972400-64973200	Active TSS	GM12878-XiMat	blood
32	chr6:64972400-64973800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:64972400-64974400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:64972600-64973400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:64972600-64973400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:64972600-64974400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:64972600-64974400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:64972800-64973000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:64972800-64973000	Enhancers	Fetal Intestine Small	intestine
40	chr6:64973200-64973400	Flanking Active TSS	GM12878-XiMat	blood
41	chr6:64973400-64976000	Enhancers	GM12878-XiMat	blood
42	chr6:64974000-64974200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:64976000-64976400	Active TSS	GM12878-XiMat	blood
44	chr6:64976400-64976800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:64976400-64976800	Flanking Active TSS	GM12878-XiMat	blood
46	chr6:64976400-64977000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:64976800-64977200	Enhancers	GM12878-XiMat	blood
48	chr6:64985800-64986800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:64986800-64989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:64988600-64990000	Enhancers	Fetal Lung	lung

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