Variant report

Variant	esv18397
Chromosome Location	chr12:60102386-60104047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60097757..60100206-chr12:60101491..60103766,2	MCF-7	breast:
2	chr12:60017381..60019392-chr12:60100051..60102873,2	MCF-7	breast:
3	chr12:49658095..49659753-chr12:60101910..60104297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167553	chromatin interactions
ENSG00000258101	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565341795	chr12:60102398-60102399	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539263831	chr12:60102410-60102411	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534565677	chr12:60102418-60102419	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548120149	chr12:60102454-60102455	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566791371	chr12:60102463-60102464	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117533016	chr12:60102472-60102473	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78168274	chr12:60102478-60102479	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185041825	chr12:60102479-60102480	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113686942	chr12:60102496-60102497	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555779243	chr12:60102510-60102511	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575756562	chr12:60102513-60102514	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544685056	chr12:60102523-60102524	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557980414	chr12:60102562-60102563	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34776671	chr12:60102606-60102607	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190543071	chr12:60102612-60102613	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528739303	chr12:60102693-60102694	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536877542	chr12:60102798-60102799	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540492286	chr12:60102862-60102863	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560379846	chr12:60102875-60102876	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552053153	chr12:60102884-60102885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529526835	chr12:60102918-60102919	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2132872	chr12:60102921-60102922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561342950	chr12:60102944-60102945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530462713	chr12:60102945-60102946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs180950783	chr12:60102970-60102971	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143161488	chr12:60102997-60102998	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112682453	chr12:60103034-60103035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539941008	chr12:60103047-60103048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566703559	chr12:60103056-60103057	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111661759	chr12:60103076-60103077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549340259	chr12:60103095-60103096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569236056	chr12:60103096-60103097	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537855208	chr12:60103133-60103134	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148249143	chr12:60103190-60103191	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12426819	chr12:60103232-60103233	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs372586357	chr12:60103235-60103236	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553924582	chr12:60103245-60103246	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs536015007	chr12:60103309-60103310	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs375656126	chr12:60103320-60103321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189609385	chr12:60103323-60103324	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141254172	chr12:60103324-60103325	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562850056	chr12:60103348-60103349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552718699	chr12:60103361-60103362	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575128283	chr12:60103391-60103392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542536217	chr12:60103398-60103399	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs555811091	chr12:60103417-60103418	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575775504	chr12:60103441-60103442	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116667951	chr12:60103447-60103448	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115220927	chr12:60103449-60103450	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181354481	chr12:60103459-60103460	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:60086000-60102400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:60086200-60105200	Weak transcription	Aorta	Aorta
4	chr12:60086200-60106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:60087600-60108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:60089400-60126000	Weak transcription	Left Ventricle	heart
7	chr12:60093800-60107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:60093800-60108800	Weak transcription	Ovary	ovary
9	chr12:60093800-60109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:60093800-60126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:60094000-60103400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:60094000-60127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:60094200-60107200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:60094200-60127200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:60094600-60104400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:60095400-60114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:60096200-60104800	Weak transcription	Fetal Thymus	thymus
18	chr12:60096800-60105400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:60097200-60109600	Weak transcription	Dnd41	blood
20	chr12:60098000-60117000	Weak transcription	Psoas Muscle	Psoas
21	chr12:60098600-60109000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:60099200-60107600	Weak transcription	Hela-S3	cervix
23	chr12:60099200-60109200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:60099200-60126600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:60099400-60130400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:60099600-60143200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:60100000-60103400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:60100400-60104600	Weak transcription	Esophagus	oesophagus
30	chr12:60100400-60126400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:60100600-60127200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:60101000-60103600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:60101200-60102600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:60101600-60102600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:60101600-60102600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:60101600-60102600	Enhancers	NHDF-Ad	bronchial
37	chr12:60101600-60102600	Enhancers	Osteobl	bone
38	chr12:60101600-60102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:60101600-60102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:60101600-60102800	Enhancers	HMEC	breast
41	chr12:60101600-60103000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:60101600-60108800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:60101800-60102600	Enhancers	NHEK	skin
44	chr12:60101800-60102600	Enhancers	NHLF	lung
45	chr12:60101800-60122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:60102400-60109400	Strong transcription	Primary T cells from cord blood	blood
47	chr12:60102600-60102800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:60102600-60103800	Enhancers	Brain Anterior Caudate	brain
49	chr12:60102600-60103800	Weak transcription	NHEK	skin
50	chr12:60102600-60105800	Weak transcription	NHDF-Ad	bronchial

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