Variant report

Variant	esv3427096
Chromosome Location	chr2:50036848-50038846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534753078	chr2:50036891-50036892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552339617	chr2:50036899-50036900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115978610	chr2:50037032-50037033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559569218	chr2:50037101-50037102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542036422	chr2:50037119-50037120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557668769	chr2:50037186-50037187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187772084	chr2:50037202-50037203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192743107	chr2:50037203-50037204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564031558	chr2:50037261-50037262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528211871	chr2:50037263-50037264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540305257	chr2:50037302-50037303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562407767	chr2:50037330-50037331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184736776	chr2:50037334-50037335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529124920	chr2:50037340-50037341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188966421	chr2:50037342-50037343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114722967	chr2:50037394-50037395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533029951	chr2:50037429-50037430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181715891	chr2:50037457-50037458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570476316	chr2:50037488-50037489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6545133	chr2:50037558-50037559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553078053	chr2:50037617-50037618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71401046	chr2:50037679-50037680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568199474	chr2:50037732-50037733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114718062	chr2:50037767-50037768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71401047	chr2:50037801-50037802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58331735	chr2:50037823-50037824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548385674	chr2:50037828-50037829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111795344	chr2:50037842-50037843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575904024	chr2:50037863-50037864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370542518	chr2:50037875-50037876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537361210	chr2:50037913-50037914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546146749	chr2:50037967-50037968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58400710	chr2:50037968-50037969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565307143	chr2:50038048-50038049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550697783	chr2:50038078-50038079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570553181	chr2:50038096-50038097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540221804	chr2:50038104-50038105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535823139	chr2:50038124-50038125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116058641	chr2:50038146-50038147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80156543	chr2:50038183-50038184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562500814	chr2:50038185-50038186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539531316	chr2:50038198-50038199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533271153	chr2:50038215-50038216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553080121	chr2:50038263-50038264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200734678	chr2:50038272-50038273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551232189	chr2:50038278-50038279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566406578	chr2:50038287-50038288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373925193	chr2:50038299-50038300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184306410	chr2:50038305-50038306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189469965	chr2:50038342-50038343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50035600-50038800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:50036200-50037200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:50036400-50037200	Enhancers	Brain Angular Gyrus	brain
4	chr2:50036400-50037200	Enhancers	Brain Substantia Nigra	brain
5	chr2:50036400-50037200	Enhancers	Fetal Heart	heart
6	chr2:50036600-50037200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:50036600-50037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:50037200-50038200	Weak transcription	Fetal Heart	heart
9	chr2:50037200-50038800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:50038200-50042000	Enhancers	Fetal Heart	heart
11	chr2:50038800-50041000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:50038800-50041800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links