Variant report

Variant	nsv522358
Chromosome Location	chr12:26006066-26013013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25992183..25992904-chr12:26011740..26012602,3	MCF-7	breast:
2	chr12:26001348..26002904-chr12:26005653..26008250,2	MCF-7	breast:

Extended variants
information (count: 262 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7297348	chr12:26006066-26006067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544041016	chr12:26006190-26006191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373239953	chr12:26006205-26006206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559531438	chr12:26006221-26006222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530066728	chr12:26006299-26006300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370676270	chr12:26006306-26006307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180740510	chr12:26006371-26006372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570334128	chr12:26006403-26006404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139258730	chr12:26006479-26006480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552836203	chr12:26006502-26006503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115215587	chr12:26006507-26006508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186621980	chr12:26006551-26006552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547458891	chr12:26006553-26006554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117979711	chr12:26006592-26006593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536216823	chr12:26006601-26006602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554459817	chr12:26006609-26006610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575966144	chr12:26006632-26006633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12306745	chr12:26006682-26006683	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs11611418	chr12:26006703-26006704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12313050	chr12:26006708-26006709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541178965	chr12:26006753-26006754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559754832	chr12:26006772-26006773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74070898	chr12:26006799-26006800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557298500	chr12:26006828-26006829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542207894	chr12:26006831-26006832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563655853	chr12:26006834-26006835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114748853	chr12:26006850-26006851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189740925	chr12:26006927-26006928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564564877	chr12:26006944-26006945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs706504	chr12:26006949-26006950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150995108	chr12:26007015-26007016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565734191	chr12:26007028-26007029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542676417	chr12:26007037-26007038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376650546	chr12:26007069-26007070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530909858	chr12:26007115-26007116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140496953	chr12:26007156-26007157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150436732	chr12:26007173-26007174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200551117	chr12:26007186-26007187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147663743	chr12:26007239-26007240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558387983	chr12:26007265-26007266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576965377	chr12:26007279-26007280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181226706	chr12:26007298-26007299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553209633	chr12:26007332-26007333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574913743	chr12:26007336-26007337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542323588	chr12:26007416-26007417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563721306	chr12:26007442-26007443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575700468	chr12:26007504-26007505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1167753	chr12:26007526-26007527	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564755127	chr12:26007552-26007553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113751021	chr12:26007561-26007562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26004800-26006600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:26004800-26007400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:26005400-26006400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:26005600-26006200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:26005600-26007400	Enhancers	Liver	Liver
6	chr12:26006600-26011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:26006800-26007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:26006800-26008000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:26007200-26007600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:26007400-26008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:26007800-26008400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:26007800-26008400	Enhancers	NHEK	skin
13	chr12:26008000-26008400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:26008000-26009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:26008000-26009400	Enhancers	HUVEC	blood vessel
16	chr12:26008200-26009000	Enhancers	HMEC	breast
17	chr12:26008200-26009200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:26008400-26009000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:26008400-26012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:26008400-26013000	Weak transcription	NHEK	skin
21	chr12:26008600-26008800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:26008600-26008800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:26008600-26009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:26008600-26009000	Bivalent Enhancer	Osteobl	bone
25	chr12:26008600-26009400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:26008800-26010000	Enhancers	Placenta	Placenta
27	chr12:26009000-26015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:26009000-26017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:26009400-26012200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:26010000-26012200	Weak transcription	Placenta	Placenta
31	chr12:26011400-26012200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:26011800-26013800	Enhancers	Primary T cells from cord blood	blood
33	chr12:26012000-26012400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:26012200-26012400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:26012200-26012400	Enhancers	Placenta	Placenta
36	chr12:26012200-26013800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:26012200-26013800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:26012200-26014000	Enhancers	Fetal Thymus	thymus
39	chr12:26012400-26012600	Weak transcription	Placenta	Placenta
40	chr12:26012400-26013200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:26012400-26013400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:26012400-26013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:26012600-26013000	Enhancers	Placenta	Placenta
44	chr12:26012600-26013400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:26012800-26014000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:26013000-26013400	Enhancers	NHEK	skin
47	chr12:26013000-26018800	Weak transcription	Placenta	Placenta

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