Variant report

Variant	esv3460887
Chromosome Location	chr2:47951705-47952683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547436006	chr2:47951723-47951724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566379746	chr2:47951724-47951725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536919896	chr2:47951738-47951739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138761169	chr2:47951743-47951744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142748860	chr2:47951754-47951755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147363916	chr2:47951774-47951775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1558491	chr2:47951775-47951776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548610308	chr2:47951778-47951779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62139862	chr2:47951786-47951787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553453501	chr2:47951792-47951793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141606618	chr2:47951803-47951804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183516316	chr2:47951816-47951817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190487551	chr2:47951823-47951824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs797691	chr2:47951825-47951826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79265608	chr2:47951867-47951868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139395023	chr2:47951870-47951871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546188694	chr2:47951871-47951872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs797690	chr2:47951893-47951894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs150042758	chr2:47951901-47951902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182312810	chr2:47951928-47951929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559815044	chr2:47951960-47951961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369029682	chr2:47951966-47951967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530101867	chr2:47951992-47951993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535090589	chr2:47952030-47952031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566984030	chr2:47952063-47952064	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570362071	chr2:47952081-47952082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537653404	chr2:47952089-47952090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs146602645	chr2:47952104-47952105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs367808097	chr2:47952109-47952110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553951974	chr2:47952128-47952129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571332920	chr2:47952197-47952198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs797689	chr2:47952231-47952232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs553806873	chr2:47952239-47952240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565370144	chr2:47952246-47952247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535832862	chr2:47952259-47952260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554486719	chr2:47952293-47952294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575895246	chr2:47952305-47952306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35319594	chr2:47952319-47952320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115592822	chr2:47952324-47952325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185322173	chr2:47952342-47952343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576949034	chr2:47952364-47952365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537231618	chr2:47952370-47952371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376659992	chr2:47952387-47952388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs797688	chr2:47952398-47952399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs559878961	chr2:47952402-47952403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530164111	chr2:47952442-47952443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369734171	chr2:47952445-47952446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537950254	chr2:47952485-47952486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563980438	chr2:47952521-47952522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531077568	chr2:47952536-47952537	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47942600-47954800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:47946200-47952800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:47947400-47951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:47948800-47954600	Weak transcription	Placenta	Placenta
5	chr2:47949600-47953200	Enhancers	Primary B cells from cord blood	blood
6	chr2:47949800-47952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:47950000-47951800	Enhancers	GM12878-XiMat	blood
8	chr2:47950400-47954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:47950800-47951800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:47951400-47952000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:47951400-47952800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:47951400-47953000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:47951600-47952200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:47951600-47952200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:47951800-47952200	Flanking Active TSS	GM12878-XiMat	blood
16	chr2:47951800-47952400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:47952000-47952200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:47952200-47954400	Enhancers	GM12878-XiMat	blood
19	chr2:47952200-47955400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:47952400-47953000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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