Variant report

Variant	esv2760570
Chromosome Location	chr2:133825990-133830790
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	chr2:133826353..133828506-chr2:133839741..133842653,2	MCF-7	breast:
2	chr2:133828442..133830137-chr2:133831672..133833496,2	MCF-7	breast:

Extended variants
information (count: 163 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10205918	chr2:133825990-133825991	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184917411	chr2:133826131-133826132	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547222376	chr2:133826157-133826158	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568622163	chr2:133826172-133826173	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536199396	chr2:133826177-133826178	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1370594	chr2:133826201-133826202	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568865048	chr2:133826215-133826216	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147435623	chr2:133826310-133826311	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7588373	chr2:133826358-133826359	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs572613842	chr2:133826475-133826476	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535521184	chr2:133826480-133826481	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555345362	chr2:133826530-133826531	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539894521	chr2:133826602-133826603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139753847	chr2:133826610-133826611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573492317	chr2:133826616-133826617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188164200	chr2:133826625-133826626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567593741	chr2:133826640-133826641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562617603	chr2:133826647-133826648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533226817	chr2:133826650-133826651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7588709	chr2:133826670-133826671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564430102	chr2:133826671-133826672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528596900	chr2:133826683-133826684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113421936	chr2:133826694-133826695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556634318	chr2:133826705-133826706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180921362	chr2:133826734-133826735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370180699	chr2:133826787-133826788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568709584	chr2:133826805-133826806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112371147	chr2:133826840-133826841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551128158	chr2:133826851-133826852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185640544	chr2:133826876-133826877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373680210	chr2:133826902-133826903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540086809	chr2:133826938-133826939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191533737	chr2:133826943-133826944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201754823	chr2:133826964-133826965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566128551	chr2:133826972-133826973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533682209	chr2:133827002-133827003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555029790	chr2:133827020-133827021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578072687	chr2:133827021-133827022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573527031	chr2:133827119-133827120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74832929	chr2:133827172-133827173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181710134	chr2:133827248-133827249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556288580	chr2:133827252-133827253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577868421	chr2:133827261-133827262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530691600	chr2:133827340-133827341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564515650	chr2:133827423-133827424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201034549	chr2:133827442-133827443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573263262	chr2:133827443-133827444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201632333	chr2:133827444-133827445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1370595	chr2:133827457-133827458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113306743	chr2:133827636-133827637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133819600-133830800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:133820600-133830800	Weak transcription	Hela-S3	cervix
3	chr2:133824400-133828800	Weak transcription	Fetal Brain Male	brain
4	chr2:133825800-133826600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:133825800-133826600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:133826600-133830600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:133829000-133830000	Weak transcription	Fetal Brain Male	brain
8	chr2:133830000-133830600	Enhancers	NHEK	skin
9	chr2:133830000-133831400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:133830400-133831600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:133830600-133831200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:133830600-133831400	Flanking Active TSS	NHEK	skin
13	chr2:133830600-133831600	Enhancers	HMEC	breast

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