Variant report

Variant	esv3387467
Chromosome Location	chr12:50272456-50273204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
2	chr12:50270045..50272990-chr12:50279975..50282889,2	MCF-7	breast:
3	chr12:50272122..50274588-chr12:50280399..50282303,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201829649	chr12:50272456-50272457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374536580	chr12:50272458-50272459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539137998	chr12:50272498-50272499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529401504	chr12:50272499-50272500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555747879	chr12:50272501-50272502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200044837	chr12:50272504-50272505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115852313	chr12:50272508-50272509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556705153	chr12:50272519-50272520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374672930	chr12:50272520-50272521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149917238	chr12:50272525-50272526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560491366	chr12:50272531-50272532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201511573	chr12:50272533-50272534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147213740	chr12:50272541-50272542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371143855	chr12:50272542-50272543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184448456	chr12:50272545-50272546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199925525	chr12:50272559-50272560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189330777	chr12:50272560-50272561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145530390	chr12:50272583-50272584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376138825	chr12:50272587-50272588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386762907	chr12:50272588-50272589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201382583	chr12:50272590-50272591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199975036	chr12:50272591-50272592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61723204	chr12:50272596-50272597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61722420	chr12:50272605-50272606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61720569	chr12:50272606-50272607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61724275	chr12:50272619-50272620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201036034	chr12:50272622-50272623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61726735	chr12:50272626-50272627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200037452	chr12:50272634-50272635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111203862	chr12:50272635-50272636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145337057	chr12:50272636-50272637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373681354	chr12:50272641-50272642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374417830	chr12:50272644-50272645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61722082	chr12:50272651-50272652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371308480	chr12:50272653-50272654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368567477	chr12:50272655-50272656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371070322	chr12:50272667-50272668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62648568	chr12:50272668-50272669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145512623	chr12:50272670-50272671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373654821	chr12:50272687-50272688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61728381	chr12:50272690-50272691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367729333	chr12:50272693-50272694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111203863	chr12:50272705-50272706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140436325	chr12:50272749-50272750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546400271	chr12:50272754-50272755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184072017	chr12:50272762-50272763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201955916	chr12:50272767-50272768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562351469	chr12:50272778-50272779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200391564	chr12:50272792-50272793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368236616	chr12:50272795-50272796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50266200-50275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50267000-50275800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
4	chr12:50268200-50276400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:50269000-50274800	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr12:50269200-50273200	Strong transcription	Brain Angular Gyrus	brain
7	chr12:50269200-50274600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:50269400-50275400	Weak transcription	Fetal Stomach	stomach
9	chr12:50270000-50276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:50271200-50274600	Strong transcription	Brain Cingulate Gyrus	brain
11	chr12:50271400-50274600	Strong transcription	Brain Anterior Caudate	brain
12	chr12:50271600-50274800	Strong transcription	Brain Substantia Nigra	brain
13	chr12:50271800-50273200	Strong transcription	Fetal Brain Male	brain
14	chr12:50271800-50273200	Weak transcription	Fetal Kidney	kidney
15	chr12:50271800-50274400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:50272000-50273000	Weak transcription	Pancreas	Pancrea
17	chr12:50272000-50274400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:50272200-50273000	Weak transcription	Fetal Brain Female	brain
19	chr12:50272800-50273400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:50273000-50273400	Enhancers	Pancreas	Pancrea
21	chr12:50273000-50276400	Strong transcription	Fetal Brain Female	brain
22	chr12:50273200-50273600	ZNF genes & repeats	Brain Angular Gyrus	brain
23	chr12:50273200-50274600	ZNF genes & repeats	Fetal Kidney	kidney
24	chr12:50273200-50274600	Active TSS	Fetal Lung	lung
25	chr12:50273200-50275000	ZNF genes & repeats	Fetal Brain Male	brain

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