Variant report

Variant	nsv962031
Chromosome Location	chr2:50774027-50776819
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	chr2:50772056..50774742-chr2:50775093..50776759,2	K562	blood:
2	chr2:50772056..50774742-chr2:50775093..50776759,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559647614	chr2:50774027-50774028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529808857	chr2:50774051-50774052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547948164	chr2:50774069-50774070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138717688	chr2:50774088-50774089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10175903	chr2:50774094-50774095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527422056	chr2:50774103-50774104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114448604	chr2:50774127-50774128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189373078	chr2:50774152-50774153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557158432	chr2:50774153-50774154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142880365	chr2:50774157-50774158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188683590	chr2:50774198-50774199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181459450	chr2:50774213-50774214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529868123	chr2:50774219-50774220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550011446	chr2:50774229-50774230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546783237	chr2:50774236-50774237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74995522	chr2:50774279-50774280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559580083	chr2:50774304-50774305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527294994	chr2:50774323-50774324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554798407	chr2:50774324-50774325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72835366	chr2:50774348-50774349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141290661	chr2:50774357-50774358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558945831	chr2:50774376-50774377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186495314	chr2:50774411-50774412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71404963	chr2:50774436-50774437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67276499	chr2:50774437-50774438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386390167	chr2:50774444-50774445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34901935	chr2:50774456-50774457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60213629	chr2:50774459-50774460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565827823	chr2:50774508-50774509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150765517	chr2:50774524-50774525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553551829	chr2:50774527-50774528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2058750	chr2:50774582-50774583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542396236	chr2:50774592-50774593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563085748	chr2:50774639-50774640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530520761	chr2:50774651-50774652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111764462	chr2:50774705-50774706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76479855	chr2:50774748-50774749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549881704	chr2:50774785-50774786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569889036	chr2:50774803-50774804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72882091	chr2:50774810-50774811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546550939	chr2:50774820-50774821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6707344	chr2:50774874-50774875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529116831	chr2:50774882-50774883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77482356	chr2:50774892-50774893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548405783	chr2:50774905-50774906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570166171	chr2:50774915-50774916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532313300	chr2:50774946-50774947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537501482	chr2:50774955-50774956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559004966	chr2:50774991-50774992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570828734	chr2:50775033-50775034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50759800-50777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:50766200-50791800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:50773200-50775400	Enhancers	HMEC	breast
4	chr2:50773400-50775400	Enhancers	NHEK	skin
5	chr2:50773600-50774800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:50773600-50778600	Weak transcription	Fetal Heart	heart
7	chr2:50774000-50774200	Enhancers	Brain Germinal Matrix	brain
8	chr2:50774000-50775600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:50774200-50775400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:50774200-50775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:50774200-50779000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:50774400-50775400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:50774600-50775000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:50774800-50775200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links