Variant report

Variant	esv2498446
Chromosome Location	chr12:41182656-41184236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143272875	chr12:41182700-41182701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539984558	chr12:41182715-41182716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189356567	chr12:41182727-41182728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551733879	chr12:41182740-41182741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532069893	chr12:41182750-41182751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370012868	chr12:41182759-41182760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377623184	chr12:41182776-41182777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1928552	chr12:41182796-41182797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371247384	chr12:41182803-41182804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531132136	chr12:41182820-41182821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7302057	chr12:41182872-41182873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567528656	chr12:41182895-41182896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202138629	chr12:41182909-41182910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534880129	chr12:41182914-41182915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7135780	chr12:41182929-41182930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565746125	chr12:41182936-41182937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7132626	chr12:41182939-41182940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7302303	chr12:41183000-41183001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567705888	chr12:41183014-41183015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575921476	chr12:41183043-41183044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549038732	chr12:41183045-41183046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567182887	chr12:41183092-41183093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11178380	chr12:41183139-41183140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368167557	chr12:41183197-41183198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370097493	chr12:41183198-41183199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373812412	chr12:41183199-41183200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192487400	chr12:41183200-41183201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367771672	chr12:41183201-41183202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555687640	chr12:41183296-41183297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184949497	chr12:41183394-41183395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141426346	chr12:41183497-41183498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200568925	chr12:41183499-41183500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201364547	chr12:41183500-41183501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376967833	chr12:41183501-41183502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188873575	chr12:41183570-41183571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181661703	chr12:41183611-41183612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201178767	chr12:41183618-41183619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550106748	chr12:41183632-41183633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541204514	chr12:41183650-41183651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78105535	chr12:41183660-41183661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565302070	chr12:41183671-41183672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532266971	chr12:41183679-41183680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374568842	chr12:41183727-41183728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34872247	chr12:41183747-41183748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186206655	chr12:41183758-41183759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538856544	chr12:41183830-41183831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7294835	chr12:41183840-41183841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553920242	chr12:41183850-41183851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372375813	chr12:41183876-41183877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563704001	chr12:41183909-41183910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Cancer	20164919	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41175600-41201800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:41178600-41186800	Weak transcription	Ovary	ovary
4	chr12:41181800-41182800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:41182000-41182800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:41182000-41182800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:41182000-41182800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:41182000-41184200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:41182400-41183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:41182400-41184800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:41182400-41186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:41182600-41183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:41182600-41184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:41182600-41186600	Weak transcription	Fetal Lung	lung
15	chr12:41182600-41187000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:41182600-41187000	Weak transcription	A549	lung
17	chr12:41182800-41183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:41182800-41185000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:41182800-41185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:41182800-41185600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:41183800-41184000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:41183800-41184000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:41183800-41184600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:41184000-41184400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:41184200-41186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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