Variant report

Variant	nsv522213
Chromosome Location	chr2:47948101-47956844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 422 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs797700	chr2:47948101-47948102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188124077	chr2:47948112-47948113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372313284	chr2:47948140-47948141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5830970	chr2:47948141-47948142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75545551	chr2:47948151-47948152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368111246	chr2:47948152-47948153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563756033	chr2:47948171-47948172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530967541	chr2:47948172-47948173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574252534	chr2:47948179-47948180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544842291	chr2:47948200-47948201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570545935	chr2:47948207-47948208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182037080	chr2:47948209-47948210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184729619	chr2:47948250-47948251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs797699	chr2:47948276-47948277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs797698	chr2:47948282-47948283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370173706	chr2:47948288-47948289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190486408	chr2:47948290-47948291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560333861	chr2:47948308-47948309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11374119	chr2:47948309-47948310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397957298	chr2:47948315-47948316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529432475	chr2:47948325-47948326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs797697	chr2:47948336-47948337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552587209	chr2:47948377-47948378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs797696	chr2:47948389-47948390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558226816	chr2:47948391-47948392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570740071	chr2:47948396-47948397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114486367	chr2:47948432-47948433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115514518	chr2:47948479-47948480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147349051	chr2:47948509-47948510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200078126	chr2:47948527-47948528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374394287	chr2:47948565-47948566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141066049	chr2:47948568-47948569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542035847	chr2:47948611-47948612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77883908	chr2:47948626-47948627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368533101	chr2:47948629-47948630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549598073	chr2:47948635-47948636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571310615	chr2:47948658-47948659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181798891	chr2:47948673-47948674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374258527	chr2:47948684-47948685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564286101	chr2:47948693-47948694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs797695	chr2:47948698-47948699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs540606464	chr2:47948713-47948714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562399229	chr2:47948719-47948720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529493043	chr2:47948785-47948786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550716572	chr2:47948787-47948788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569422296	chr2:47948828-47948829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs797694	chr2:47948853-47948854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs149850285	chr2:47948870-47948871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145840111	chr2:47948876-47948877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs797693	chr2:47948890-47948891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47942600-47954800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:47946000-47948200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:47946200-47952800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:47947200-47948200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:47947200-47948800	Enhancers	GM12878-XiMat	blood
6	chr2:47947400-47948400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:47947400-47948400	Weak transcription	Placenta	Placenta
8	chr2:47947400-47951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:47947800-47949600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:47948200-47948600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:47948400-47948800	Enhancers	Placenta	Placenta
12	chr2:47948400-47949000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:47948400-47950400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:47948600-47948800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:47948800-47949600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:47948800-47950000	Weak transcription	GM12878-XiMat	blood
17	chr2:47948800-47954600	Weak transcription	Placenta	Placenta
18	chr2:47949000-47949200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr2:47949000-47949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:47949200-47949800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:47949600-47949800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:47949600-47950400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:47949600-47953200	Enhancers	Primary B cells from cord blood	blood
24	chr2:47949800-47952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:47950000-47951800	Enhancers	GM12878-XiMat	blood
26	chr2:47950200-47950800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:47950400-47954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:47950800-47951800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:47951400-47952000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:47951400-47952800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:47951400-47953000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:47951600-47952200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:47951600-47952200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:47951800-47952200	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:47951800-47952400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:47952000-47952200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:47952200-47954400	Enhancers	GM12878-XiMat	blood
38	chr2:47952200-47955400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:47952400-47953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:47952800-47953000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:47953000-47953200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:47953000-47953200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:47953200-47954000	Weak transcription	Primary B cells from cord blood	blood
44	chr2:47954000-47954200	Enhancers	Primary B cells from cord blood	blood
45	chr2:47954400-47956200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:47954600-47955000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:47954600-47956200	Enhancers	Placenta	Placenta
48	chr2:47954800-47955600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:47955000-47956600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:47955400-47955600	Enhancers	Placenta Amnion	Placenta Amnion

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