Variant report

Variant	esv3496564
Chromosome Location	chr12:44691742-44692994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578261437	chr12:44691756-44691757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545398246	chr12:44691782-44691783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557361740	chr12:44691783-44691784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185996689	chr12:44691797-44691798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543130430	chr12:44691808-44691809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116381817	chr12:44691814-44691815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528283308	chr12:44691832-44691833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540080749	chr12:44691835-44691836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564836186	chr12:44691836-44691837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386762626	chr12:44691858-44691859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149555021	chr12:44691873-44691874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532303326	chr12:44692028-44692029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550271671	chr12:44692040-44692041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190851025	chr12:44692069-44692070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs840768	chr12:44692089-44692090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373054470	chr12:44692095-44692096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74084479	chr12:44692108-44692109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184092914	chr12:44692167-44692168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535227306	chr12:44692170-44692171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553629780	chr12:44692174-44692175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144222091	chr12:44692200-44692201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571956893	chr12:44692208-44692209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539335107	chr12:44692210-44692211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557045731	chr12:44692211-44692212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374687086	chr12:44692223-44692224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575597711	chr12:44692233-44692234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542718115	chr12:44692238-44692239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554637622	chr12:44692259-44692260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531670560	chr12:44692398-44692399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144940589	chr12:44692442-44692443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573050209	chr12:44692445-44692446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145558549	chr12:44692472-44692473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189023766	chr12:44692477-44692478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532243476	chr12:44692480-44692481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146555889	chr12:44692574-44692575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562302123	chr12:44692654-44692655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567179100	chr12:44692728-44692729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78343912	chr12:44692731-44692732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539433807	chr12:44692787-44692788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141202761	chr12:44692808-44692809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371795744	chr12:44692821-44692822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547183171	chr12:44692833-44692834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375671360	chr12:44692911-44692912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79410148	chr12:44692930-44692931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78747014	chr12:44692932-44692933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12297701	chr12:44692936-44692937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182965323	chr12:44692950-44692951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538916639	chr12:44692953-44692954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44676600-44697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44682000-44698600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44685000-44695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44688800-44702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:44690400-44697800	Weak transcription	HSMMtube	muscle
6	chr12:44690400-44698000	Weak transcription	Liver	Liver
7	chr12:44690400-44698600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:44690600-44697800	Weak transcription	Aorta	Aorta
9	chr12:44690600-44697800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:44690800-44694800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:44690800-44696000	Weak transcription	Pancreas	Pancrea
12	chr12:44690800-44698000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:44690800-44698000	Weak transcription	Esophagus	oesophagus
14	chr12:44690800-44701400	Weak transcription	Left Ventricle	heart
15	chr12:44691400-44692400	Weak transcription	Fetal Intestine Large	intestine
16	chr12:44691400-44692400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:44691400-44701400	Weak transcription	Psoas Muscle	Psoas
18	chr12:44692400-44692600	Enhancers	Fetal Intestine Large	intestine
19	chr12:44692400-44693000	Enhancers	Fetal Intestine Small	intestine
20	chr12:44692600-44693600	Weak transcription	Fetal Intestine Large	intestine

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