Variant report

Variant	nsv947218
Chromosome Location	chr1:210214297-210221111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115960212	chr1:210214336-210214337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557172845	chr1:210214343-210214344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147795616	chr1:210214348-210214349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs227194	chr1:210214419-210214420	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74710664	chr1:210214440-210214441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115074272	chr1:210214449-210214450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185067560	chr1:210214488-210214489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577311411	chr1:210214489-210214490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189619809	chr1:210214493-210214494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149820056	chr1:210214524-210214525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563500423	chr1:210214602-210214603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556841955	chr1:210214632-210214633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530745151	chr1:210214745-210214746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542808495	chr1:210214777-210214778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561243734	chr1:210214828-210214829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528327763	chr1:210214945-210214946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75042263	chr1:210214948-210214949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74156281	chr1:210214957-210214958	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532103946	chr1:210214983-210214984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115044403	chr1:210214986-210214987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568579734	chr1:210214994-210214995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542850600	chr1:210215017-210215018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536458992	chr1:210215067-210215068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181228125	chr1:210215073-210215074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567202712	chr1:210215179-210215180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534217987	chr1:210215182-210215183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116152167	chr1:210215183-210215184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369610447	chr1:210215198-210215199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577143798	chr1:210215219-210215220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4551595	chr1:210215269-210215270	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186691263	chr1:210215288-210215289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555990434	chr1:210215356-210215357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12561877	chr1:210215414-210215415	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs538675289	chr1:210215444-210215445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565246193	chr1:210215578-210215579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202149896	chr1:210215601-210215602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528425708	chr1:210215638-210215639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540141112	chr1:210215647-210215648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532553687	chr1:210215695-210215696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565158494	chr1:210215776-210215777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531996697	chr1:210215780-210215781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550121235	chr1:210215786-210215787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568615800	chr1:210215830-210215831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529739682	chr1:210215847-210215848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548807689	chr1:210215850-210215851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191268289	chr1:210215853-210215854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183513069	chr1:210215856-210215857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186130177	chr1:210215944-210215945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571122642	chr1:210215956-210215957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190845416	chr1:210215974-210215975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210193400-210221000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:210195000-210221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:210212000-210215600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210212600-210215000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:210213000-210221800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:210213000-210223800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:210215000-210221200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:210215600-210218000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210216400-210217200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:210216600-210217000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:210216800-210223000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:210217000-210221600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:210218000-210218400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:210218400-210219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:210219200-210222400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:210220600-210221200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:210221000-210221400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr1:210221000-210223600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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