Variant report

Variant	nsv2722
Chromosome Location	chr2:49518220-49563391
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	chr2:49482441..49483071-chr2:49559200..49560186,2	MCF-7	breast:

Extended variants
information (count: 640 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147047193	chr2:49518231-49518232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184648117	chr2:49518244-49518245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570709626	chr2:49518258-49518259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549546544	chr2:49518260-49518261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561627756	chr2:49518261-49518262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534536197	chr2:49518272-49518273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190328495	chr2:49518309-49518310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182261027	chr2:49518343-49518344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532241052	chr2:49518353-49518354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535183884	chr2:49518382-49518383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573829369	chr2:49518387-49518388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556968926	chr2:49518398-49518399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575150448	chr2:49518406-49518407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs66642762	chr2:49518407-49518408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386390145	chr2:49518409-49518410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56389718	chr2:49518411-49518412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545746906	chr2:49518423-49518424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564663645	chr2:49518424-49518425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573558635	chr2:49518461-49518462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540877678	chr2:49518516-49518517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185647597	chr2:49518583-49518584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34176650	chr2:49518616-49518617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529470050	chr2:49518652-49518653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145246668	chr2:49518681-49518682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189283587	chr2:49518702-49518703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149172545	chr2:49518732-49518733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371730344	chr2:49518751-49518752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376355159	chr2:49518787-49518788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551729718	chr2:49518837-49518838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180978721	chr2:49518839-49518840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371205888	chr2:49518864-49518865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544071118	chr2:49518882-49518883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534593994	chr2:49518898-49518899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562306359	chr2:49518915-49518916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532891978	chr2:49518920-49518921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554706135	chr2:49518944-49518945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548882785	chr2:49518950-49518951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1427453	chr2:49518981-49518982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62162785	chr2:49518983-49518984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397809409	chr2:49519036-49519037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199646570	chr2:49519039-49519040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375483844	chr2:49519041-49519042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556792352	chr2:49519047-49519048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143333494	chr2:49519065-49519066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539092353	chr2:49519078-49519079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13001349	chr2:49519102-49519103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557735352	chr2:49519110-49519111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60627326	chr2:49519114-49519115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534125690	chr2:49519115-49519116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370691898	chr2:49519116-49519117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:49517200-49523000	Weak transcription	Fetal Brain Male	brain
4	chr2:49518600-49519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:49518800-49519200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:49522400-49524000	Enhancers	Right Atrium	heart
7	chr2:49522600-49523400	Enhancers	Left Ventricle	heart
8	chr2:49523000-49523400	Enhancers	Colonic Mucosa	Colon
9	chr2:49523000-49524200	Enhancers	Brain Angular Gyrus	brain
10	chr2:49523000-49524200	Enhancers	Fetal Brain Male	brain
11	chr2:49524200-49525800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:49525800-49526000	Enhancers	Brain Angular Gyrus	brain
13	chr2:49533800-49534400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:49533800-49534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:49533800-49534800	Enhancers	HUVEC	blood vessel
16	chr2:49534000-49534400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:49534000-49534600	Enhancers	HepG2	liver
18	chr2:49545000-49545400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:49552600-49553000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:49552800-49553200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:49560600-49561000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:49560800-49561000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:49561000-49561200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:49561200-49561400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:49561600-49561800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:49561600-49562800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:49562800-49564400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:49562800-49564800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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