Variant report

Variant	esv3457673
Chromosome Location	chr2:49014228-49015629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49013902..49015709-chr2:49018982..49021031,2	MCF-7	breast:
2	chr2:49011991..49014662-chr2:49016909..49018926,2	MCF-7	breast:
3	chr2:49001281..49003714-chr2:49013829..49016593,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573645509	chr2:49014245-49014246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537522564	chr2:49014259-49014260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115897376	chr2:49014273-49014274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72884558	chr2:49014298-49014299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544614627	chr2:49014306-49014307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560369863	chr2:49014319-49014320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572431219	chr2:49014328-49014329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542780497	chr2:49014332-49014333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72884559	chr2:49014408-49014409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531958145	chr2:49014417-49014418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146052248	chr2:49014418-49014419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550001762	chr2:49014442-49014443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565417188	chr2:49014455-49014456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114563045	chr2:49014471-49014472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554818262	chr2:49014533-49014534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191381313	chr2:49014548-49014549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114391587	chr2:49014633-49014634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549326208	chr2:49014654-49014655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75347263	chr2:49014660-49014661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116790682	chr2:49014666-49014667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555947282	chr2:49014699-49014700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577672394	chr2:49014722-49014723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184527158	chr2:49014740-49014741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35344527	chr2:49014754-49014755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530974529	chr2:49014762-49014763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4258850	chr2:49014800-49014801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs561669260	chr2:49014801-49014802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149781224	chr2:49014810-49014811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570810962	chr2:49014863-49014864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544001532	chr2:49014874-49014875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535028546	chr2:49014887-49014888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145756694	chr2:49014895-49014896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576271249	chr2:49014908-49014909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148967757	chr2:49014915-49014916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559766897	chr2:49014916-49014917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35187785	chr2:49014930-49014931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546669474	chr2:49014981-49014982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142899431	chr2:49015025-49015026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35061082	chr2:49015043-49015044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189661236	chr2:49015075-49015076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567562882	chr2:49015112-49015113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530763135	chr2:49015150-49015151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531359434	chr2:49015171-49015172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549971570	chr2:49015218-49015219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571222649	chr2:49015219-49015220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538334663	chr2:49015242-49015243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192726748	chr2:49015243-49015244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565331429	chr2:49015289-49015290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147721702	chr2:49015295-49015296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61442539	chr2:49015329-49015330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49013200-49017800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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