Variant report

Variant	esv3420706
Chromosome Location	chr2:133294882-133299580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs570103824	chr2:133294898-133294899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535968673	chr2:133294900-133294901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189060939	chr2:133294996-133294997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558684155	chr2:133295042-133295043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2872944	chr2:133295058-133295059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139929782	chr2:133295074-133295075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397868855	chr2:133295088-133295089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397868394	chr2:133295089-133295090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540064198	chr2:133295096-133295097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558163154	chr2:133295108-133295109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573509841	chr2:133295215-133295216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112324171	chr2:133295217-133295218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561359601	chr2:133295232-133295233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78722880	chr2:133295268-133295269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573370650	chr2:133295308-133295309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4266065	chr2:133295346-133295347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562659713	chr2:133295358-133295359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2872943	chr2:133295405-133295406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180940492	chr2:133295409-133295410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560169275	chr2:133295533-133295534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149192441	chr2:133295644-133295645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546982936	chr2:133295652-133295653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568489045	chr2:133295655-133295656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571932150	chr2:133295722-133295723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535905220	chr2:133295752-133295753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551105289	chr2:133295768-133295769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569379580	chr2:133295769-133295770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185278421	chr2:133295783-133295784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143339759	chr2:133295819-133295820	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573420883	chr2:133295840-133295841	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534241189	chr2:133295858-133295859	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554895176	chr2:133295862-133295863	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554289981	chr2:133295884-133295885	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs3115037	chr2:133295897-133295898	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543847814	chr2:133295904-133295905	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562442695	chr2:133295908-133295909	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11898258	chr2:133295927-133295928	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs72848744	chr2:133295948-133295949	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs72848746	chr2:133295949-133295950	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544863377	chr2:133295954-133295955	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190287698	chr2:133295973-133295974	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527556288	chr2:133295995-133295996	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13011435	chr2:133295999-133296000	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11888950	chr2:133296061-133296062	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541315810	chr2:133296085-133296086	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs181506802	chr2:133296086-133296087	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116771315	chr2:133296125-133296126	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11690136	chr2:133296138-133296139	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551652184	chr2:133296158-133296159	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs74645601	chr2:133296186-133296187	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic ductal adenocarcinoma	19077451	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133295600-133297400	Enhancers	Fetal Heart	heart
3	chr2:133295800-133296000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:133295800-133296400	Enhancers	Placenta	Placenta
5	chr2:133295800-133296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:133295800-133297000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr2:133296000-133296600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:133296000-133296800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:133296000-133299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:133296400-133296600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:133296400-133296600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:133296600-133300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:133296600-133301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:133296800-133297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:133297200-133298200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:133297400-133297600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:133297400-133301000	Weak transcription	Gastric	stomach
18	chr2:133297800-133298200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:133297800-133299600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:133299000-133303400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:133299200-133302800	Enhancers	Placenta	Placenta

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