Variant report

Variant	esv20846
Chromosome Location	chr12:41685767-41687157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7959120	chr12:41685771-41685772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563248367	chr12:41685773-41685774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374286484	chr12:41685814-41685815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148900974	chr12:41685816-41685817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181540970	chr12:41685817-41685818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75610661	chr12:41685835-41685836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7962171	chr12:41685836-41685837	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35323688	chr12:41685844-41685845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188348318	chr12:41685865-41685866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565434617	chr12:41685889-41685890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12305125	chr12:41685895-41685896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79333324	chr12:41685970-41685971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113621537	chr12:41685980-41685981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569199610	chr12:41686010-41686011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181735342	chr12:41686036-41686037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548253495	chr12:41686090-41686091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10879971	chr12:41686097-41686098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534502139	chr12:41686099-41686100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553179965	chr12:41686135-41686136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577764817	chr12:41686146-41686147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538888696	chr12:41686169-41686170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186306622	chr12:41686200-41686201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575286026	chr12:41686238-41686239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190378558	chr12:41686295-41686296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183330747	chr12:41686311-41686312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143621960	chr12:41686313-41686314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73122828	chr12:41686314-41686315	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565433837	chr12:41686329-41686330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532613023	chr12:41686334-41686335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551227393	chr12:41686336-41686337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73122829	chr12:41686337-41686338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530020346	chr12:41686356-41686357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73122830	chr12:41686429-41686430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148080528	chr12:41686455-41686456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533984628	chr12:41686463-41686464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369204437	chr12:41686471-41686472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112635564	chr12:41686495-41686496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576789304	chr12:41686498-41686499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116874397	chr12:41686501-41686502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141824641	chr12:41686522-41686523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528180742	chr12:41686537-41686538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555654526	chr12:41686543-41686544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575646860	chr12:41686557-41686558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536249798	chr12:41686558-41686559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554556887	chr12:41686579-41686580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572883149	chr12:41686643-41686644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146387466	chr12:41686687-41686688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376874793	chr12:41686699-41686700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558391407	chr12:41686710-41686711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577345992	chr12:41686711-41686712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41680600-41688000	Weak transcription	Aorta	Aorta
2	chr12:41681800-41685800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:41682200-41687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:41684000-41685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:41684000-41685800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:41684000-41686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:41685600-41686400	Enhancers	Fetal Intestine Large	intestine
8	chr12:41685800-41686400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:41685800-41686800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:41685800-41686800	Enhancers	NHEK	skin
11	chr12:41685800-41687600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:41685800-41687600	Enhancers	Hela-S3	cervix
13	chr12:41685800-41687800	Enhancers	HMEC	breast
14	chr12:41686000-41686200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:41686000-41686200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:41686000-41686600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:41686000-41687600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:41686200-41686600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:41686200-41686800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:41686400-41687400	Weak transcription	Fetal Intestine Large	intestine
21	chr12:41686600-41687400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:41686600-41692600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:41686800-41687400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:41686800-41687400	Flanking Active TSS	NHEK	skin

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