Variant report

Variant	nsv522316
Chromosome Location	chr6:163628923-163631658
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	chr6:163621041..163623760-chr6:163631210..163632977,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11755745	chr6:163628923-163628924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192476699	chr6:163628981-163628982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564683976	chr6:163628984-163628985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139449063	chr6:163628988-163628989	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549864883	chr6:163628990-163628991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569623791	chr6:163629022-163629023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535086740	chr6:163629063-163629064	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185032409	chr6:163629070-163629071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374522393	chr6:163629123-163629124	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190142164	chr6:163629178-163629179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374017962	chr6:163629183-163629184	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74539833	chr6:163629210-163629211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs5881513	chr6:163629298-163629299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34432862	chr6:163629299-163629300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs386409211	chr6:163629313-163629314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs55831523	chr6:163629317-163629318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376795138	chr6:163629318-163629319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371116356	chr6:163629322-163629323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374178682	chr6:163629327-163629328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368095255	chr6:163629333-163629334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs5881514	chr6:163629445-163629446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199652244	chr6:163629450-163629451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs5005309	chr6:163629451-163629452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577748868	chr6:163629452-163629453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79421239	chr6:163629461-163629462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12208377	chr6:163629466-163629467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556637886	chr6:163629489-163629490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576410910	chr6:163629507-163629508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13219179	chr6:163629513-163629514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184719967	chr6:163629514-163629515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572807412	chr6:163629517-163629518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189587724	chr6:163629538-163629539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560207987	chr6:163629547-163629548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564590136	chr6:163629588-163629589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533597611	chr6:163629593-163629594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550062672	chr6:163629614-163629615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563408485	chr6:163629615-163629616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528944383	chr6:163629691-163629692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181357398	chr6:163629700-163629701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565312925	chr6:163629718-163629719	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185038685	chr6:163629735-163629736	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs80302526	chr6:163629748-163629749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9458753	chr6:163629787-163629788	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551095888	chr6:163629807-163629808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs537253409	chr6:163629808-163629809	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556836993	chr6:163629836-163629837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570180752	chr6:163629858-163629859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189845024	chr6:163629873-163629874	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs142676335	chr6:163629944-163629945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181802893	chr6:163629963-163629964	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163608000-163632800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:163622800-163630200	Weak transcription	Right Ventricle	heart
3	chr6:163628000-163629200	Enhancers	Fetal Brain Female	brain
4	chr6:163628200-163629600	Enhancers	Fetal Heart	heart
5	chr6:163628600-163629200	Enhancers	Brain Angular Gyrus	brain
6	chr6:163628600-163629200	Enhancers	Left Ventricle	heart
7	chr6:163628600-163629400	Enhancers	Brain Hippocampus Middle	brain
8	chr6:163628600-163630400	Enhancers	Liver	Liver
9	chr6:163628800-163629000	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:163628800-163629200	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr6:163629000-163629400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr6:163629200-163629400	Enhancers	Brain Substantia Nigra	brain
13	chr6:163629200-163630000	Weak transcription	Brain Angular Gyrus	brain
14	chr6:163629200-163630200	Weak transcription	Left Ventricle	heart
15	chr6:163629400-163629800	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:163629400-163629800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:163629400-163630400	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:163629600-163630000	Flanking Active TSS	Fetal Heart	heart
19	chr6:163629800-163630400	Enhancers	Brain Hippocampus Middle	brain
20	chr6:163629800-163630400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:163629800-163630400	Enhancers	Brain Substantia Nigra	brain
22	chr6:163630000-163631000	Enhancers	Brain Angular Gyrus	brain
23	chr6:163630000-163631200	Active TSS	Fetal Heart	heart
24	chr6:163630200-163630400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:163630200-163631600	Active TSS	Right Ventricle	heart
26	chr6:163630200-163631800	Active TSS	Left Ventricle	heart
27	chr6:163630200-163631800	Active TSS	Right Atrium	heart
28	chr6:163630400-163632600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:163630400-163632600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:163630400-163632800	Weak transcription	Brain Substantia Nigra	brain
31	chr6:163630600-163632600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:163631200-163631800	Flanking Active TSS	Fetal Heart	heart

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