Variant report

Variant	esv1847884
Chromosome Location	chr12:72356955-72360264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11179009	chr12:72356955-72356956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11179010	chr12:72356986-72356987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189499042	chr12:72357035-72357036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181768370	chr12:72357066-72357067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537778446	chr12:72357265-72357266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67220079	chr12:72357315-72357316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562018833	chr12:72357316-72357317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183961814	chr12:72357357-72357358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534788009	chr12:72357366-72357367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553000408	chr12:72357398-72357399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112745696	chr12:72357486-72357487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11179011	chr12:72357672-72357673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11179012	chr12:72357770-72357771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557141651	chr12:72357893-72357894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142135541	chr12:72357938-72357939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575425824	chr12:72358046-72358047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542940773	chr12:72358062-72358063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188247760	chr12:72358090-72358091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11179013	chr12:72358092-72358093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112191409	chr12:72358095-72358096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12821195	chr12:72358102-72358103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12821199	chr12:72358107-72358108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7139179	chr12:72358116-72358117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7139195	chr12:72358140-72358141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186266410	chr12:72358166-72358167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191317876	chr12:72358211-72358212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563943180	chr12:72358213-72358214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377526123	chr12:72358272-72358273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531104285	chr12:72358277-72358278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537657134	chr12:72358290-72358291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181791246	chr12:72358346-72358347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534656584	chr12:72358366-72358367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140808889	chr12:72358399-72358400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186820418	chr12:72358489-72358490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557234998	chr12:72358496-72358497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538776675	chr12:72358525-72358526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117962916	chr12:72358526-72358527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548752884	chr12:72358536-72358537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144640055	chr12:72358538-72358539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190910861	chr12:72358549-72358550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183235245	chr12:72358553-72358554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61926467	chr12:72358558-72358559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572013740	chr12:72358560-72358561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138605283	chr12:72358607-72358608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371101870	chr12:72358667-72358668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573191534	chr12:72358675-72358676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141665617	chr12:72358681-72358682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186806476	chr12:72358719-72358720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189619055	chr12:72358720-72358721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10879347	chr12:72358770-72358771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21364760	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72353400-72360200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:72353400-72362400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:72354400-72360200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:72354600-72359600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:72354600-72359800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:72354600-72360200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:72354800-72360200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:72354800-72360200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:72356000-72359800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:72359600-72361800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:72359800-72361000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:72359800-72361200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:72360000-72361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:72360200-72360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:72360200-72360800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:72360200-72361200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:72360200-72361400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:72360200-72361400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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