Variant report

Variant	nsv5582
Chromosome Location	chr6:164390353-164405727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164386071..164388210-chr6:164391246..164393203,2	K562	blood:
2	chr6:164389860..164391370-chr6:164393128..164395944,2	K562	blood:
3	chr6:164389860..164391370-chr6:164393128..164395944,2	K562	blood:

Extended variants
information (count: 729 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73027054	chr6:164390356-164390357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562504762	chr6:164390359-164390360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531507744	chr6:164390367-164390368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548078925	chr6:164390376-164390377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567761714	chr6:164390419-164390420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116332824	chr6:164390437-164390438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147904929	chr6:164390442-164390443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115602531	chr6:164390558-164390559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539118773	chr6:164390574-164390575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78105251	chr6:164390594-164390595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575904971	chr6:164390595-164390596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76591737	chr6:164390599-164390600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372670201	chr6:164390608-164390609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62435512	chr6:164390652-164390653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111782916	chr6:164390691-164390692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116145320	chr6:164390698-164390699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573737714	chr6:164390701-164390702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577278573	chr6:164390705-164390706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541260875	chr6:164390707-164390708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562392533	chr6:164390736-164390737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531395894	chr6:164390747-164390748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552888671	chr6:164390772-164390773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12207355	chr6:164390798-164390799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544958384	chr6:164390800-164390801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141610796	chr6:164390808-164390809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186377550	chr6:164390871-164390872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144433058	chr6:164390906-164390907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549600427	chr6:164390913-164390914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16895793	chr6:164390919-164390920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542120498	chr6:164390935-164390936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542563578	chr6:164390956-164390957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114220452	chr6:164390975-164390976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113608310	chr6:164390991-164390992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547810867	chr6:164391008-164391009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191224147	chr6:164391014-164391015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531366395	chr6:164391019-164391020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111837645	chr6:164391020-164391021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554141591	chr6:164391030-164391031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577168165	chr6:164391045-164391046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183403769	chr6:164391047-164391048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147817789	chr6:164391086-164391087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187013670	chr6:164391095-164391096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112352513	chr6:164391105-164391106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561054291	chr6:164391139-164391140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111801285	chr6:164391161-164391162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527584932	chr6:164391168-164391169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540962548	chr6:164391183-164391184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375047370	chr6:164391198-164391199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140410517	chr6:164391213-164391214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150373435	chr6:164391235-164391236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164380000-164393600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:164380800-164393000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164381600-164392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:164387000-164393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:164387200-164391200	Weak transcription	Placenta	Placenta
6	chr6:164387400-164393200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:164389200-164390800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:164389200-164404600	Weak transcription	Fetal Heart	heart
9	chr6:164390800-164391200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:164391200-164391400	Enhancers	Placenta	Placenta
11	chr6:164391400-164392200	Weak transcription	Placenta	Placenta
12	chr6:164392200-164392400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:164392200-164392400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:164392200-164393200	Enhancers	Placenta	Placenta
15	chr6:164392400-164393000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:164392800-164393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:164393000-164393200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:164393000-164393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:164393000-164393800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:164393200-164393600	Flanking Active TSS	Placenta	Placenta
21	chr6:164393200-164393600	Flanking Bivalent TSS/Enh	K562	blood
22	chr6:164393200-164394000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr6:164393600-164393800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:164393600-164393800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:164393600-164393800	Enhancers	Placenta	Placenta
26	chr6:164393800-164413800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:164398800-164399000	ZNF genes & repeats	Pancreas	Pancrea
28	chr6:164399000-164405400	Weak transcription	Pancreas	Pancrea
29	chr6:164401400-164401600	Enhancers	Fetal Brain Male	brain
30	chr6:164402400-164403400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr6:164402600-164402800	Enhancers	Brain Germinal Matrix	brain
32	chr6:164402800-164404400	Weak transcription	Brain Germinal Matrix	brain
33	chr6:164402800-164404400	Weak transcription	Fetal Brain Male	brain
34	chr6:164403400-164404000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:164404000-164404200	Enhancers	Fetal Brain Female	brain
36	chr6:164404000-164404600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:164404200-164404400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:164404200-164404400	Enhancers	NH-A	brain
39	chr6:164404200-164404600	Flanking Active TSS	Fetal Brain Female	brain
40	chr6:164404200-164405000	Active TSS	Brain Anterior Caudate	brain
41	chr6:164404200-164405000	Active TSS	Brain Substantia Nigra	brain
42	chr6:164404400-164404600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:164404400-164404600	Flanking Active TSS	Fetal Brain Male	brain
44	chr6:164404400-164404800	Active TSS	Brain Angular Gyrus	brain
45	chr6:164404400-164404800	Active TSS	Ovary	ovary
46	chr6:164404400-164405000	Active TSS	Brain Cingulate Gyrus	brain
47	chr6:164404400-164405000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:164404400-164405000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr6:164404400-164405200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr6:164404400-164405200	Active TSS	Brain Inferior Temporal Lobe	brain

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