Variant report

Variant	esv3360490
Chromosome Location	chr12:50272235-50275033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50273812..50276593-chr12:50279241..50281059,2	K562	blood:
2	chr12:50272122..50274588-chr12:50280399..50282303,2	MCF-7	breast:
3	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
4	chr12:50270045..50272990-chr12:50279975..50282889,2	MCF-7	breast:
5	chr12:50269088..50271373-chr12:50274652..50276581,2	MCF-7	breast:

Extended variants
information (count: 370 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201654503	chr12:50272261-50272262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536768610	chr12:50272272-50272273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546813946	chr12:50272281-50272282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111168144	chr12:50272285-50272286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568855106	chr12:50272288-50272289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184858826	chr12:50272289-50272290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202146299	chr12:50272293-50272294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189369900	chr12:50272302-50272303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567005901	chr12:50272304-50272305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536071310	chr12:50272305-50272306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144546821	chr12:50272306-50272307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552746804	chr12:50272310-50272311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111155248	chr12:50272311-50272312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111203859	chr12:50272342-50272343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143184923	chr12:50272343-50272344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111069321	chr12:50272344-50272345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572842761	chr12:50272364-50272365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545248214	chr12:50272369-50272370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116347592	chr12:50272381-50272382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115525235	chr12:50272382-50272383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139785369	chr12:50272383-50272384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563807937	chr12:50272391-50272392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201370191	chr12:50272393-50272394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370826453	chr12:50272394-50272395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111200378	chr12:50272441-50272442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546532285	chr12:50272449-50272450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556233541	chr12:50272450-50272451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201829649	chr12:50272456-50272457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374536580	chr12:50272458-50272459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539137998	chr12:50272498-50272499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529401504	chr12:50272499-50272500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555747879	chr12:50272501-50272502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200044837	chr12:50272504-50272505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115852313	chr12:50272508-50272509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556705153	chr12:50272519-50272520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374672930	chr12:50272520-50272521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149917238	chr12:50272525-50272526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560491366	chr12:50272531-50272532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201511573	chr12:50272533-50272534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147213740	chr12:50272541-50272542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371143855	chr12:50272542-50272543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184448456	chr12:50272545-50272546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199925525	chr12:50272559-50272560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189330777	chr12:50272560-50272561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145530390	chr12:50272583-50272584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376138825	chr12:50272587-50272588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386762907	chr12:50272588-50272589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201382583	chr12:50272590-50272591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199975036	chr12:50272591-50272592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61723204	chr12:50272596-50272597	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:46 , 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
26	chr12:50273400-50273800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50273600-50277800	Strong transcription	Brain Angular Gyrus	brain
28	chr12:50273800-50274800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:50274400-50274600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:50274400-50274800	Strong transcription	Brain Hippocampus Middle	brain
31	chr12:50274400-50275400	Strong transcription	Brain Germinal Matrix	brain
32	chr12:50274600-50275200	Weak transcription	Fetal Lung	lung
33	chr12:50274600-50275200	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:50274600-50275600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:50274600-50275800	Weak transcription	Brain Anterior Caudate	brain
36	chr12:50274600-50276000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:50274600-50278800	Weak transcription	Fetal Kidney	kidney
38	chr12:50274800-50275000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:50274800-50275600	Enhancers	Placenta	Placenta
40	chr12:50274800-50276000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:50274800-50276000	Weak transcription	Brain Substantia Nigra	brain
42	chr12:50274800-50276400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:50274800-50277600	Genic enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:50275000-50275200	Enhancers	Gastric	stomach
45	chr12:50275000-50275400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain

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