Variant report

Variant	nsv557574
Chromosome Location	chr12:11913360-11931259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11928703..11930258-chr12:11944667..11947353,2	MCF-7	breast:
2	chr12:11905328..11907966-chr12:11912733..11915677,2	MCF-7	breast:
3	chr12:11818730..11821682-chr12:11929813..11932777,2	MCF-7	breast:
4	chr12:11915800..11917603-chr12:11959606..11961755,2	MCF-7	breast:
5	chr12:11801832..11803757-chr12:11920063..11922984,2	MCF-7	breast:
6	chr12:11930876..11932594-chr12:11939826..11941565,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	chromatin interactions

Extended variants
information (count: 718 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7311189	chr12:11913360-11913361	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201422218	chr12:11913482-11913483	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532160228	chr12:11913527-11913528	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186102239	chr12:11913591-11913592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57549717	chr12:11913601-11913602	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377254005	chr12:11913642-11913643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397739403	chr12:11913644-11913645	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs397765217	chr12:11913645-11913646	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201882216	chr12:11913646-11913647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545306988	chr12:11913677-11913678	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149549982	chr12:11913705-11913706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146074911	chr12:11913742-11913743	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549660397	chr12:11913812-11913813	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373419718	chr12:11913813-11913814	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59053853	chr12:11913814-11913815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4554983	chr12:11913815-11913816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28439335	chr12:11913816-11913817	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146396277	chr12:11913836-11913837	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61921811	chr12:11913838-11913839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61921812	chr12:11913840-11913841	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375523984	chr12:11913842-11913843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202189282	chr12:11913843-11913844	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565680086	chr12:11913844-11913845	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71057768	chr12:11913848-11913849	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535527411	chr12:11913856-11913857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200668135	chr12:11913857-11913858	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113498049	chr12:11913867-11913868	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201058353	chr12:11913870-11913871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202035002	chr12:11913872-11913873	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374856239	chr12:11913874-11913875	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56252509	chr12:11913878-11913879	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs17210559	chr12:11913929-11913930	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369538325	chr12:11913979-11913980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199508506	chr12:11913980-11913981	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574696487	chr12:11913987-11913988	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117142224	chr12:11914002-11914003	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569804526	chr12:11914008-11914009	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111777965	chr12:11914030-11914031	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536963973	chr12:11914039-11914040	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535092899	chr12:11914085-11914086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573702639	chr12:11914149-11914150	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554023975	chr12:11914151-11914152	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577143228	chr12:11914262-11914263	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534736034	chr12:11914312-11914313	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371535353	chr12:11914378-11914379	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75549894	chr12:11914394-11914395	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578054610	chr12:11914432-11914433	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138860594	chr12:11914439-11914440	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58918142	chr12:11914457-11914458	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539597269	chr12:11914482-11914483	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:11900600-11915000	Weak transcription	NHEK	skin
4	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:11905800-11918400	Weak transcription	Fetal Brain Male	brain
6	chr12:11906400-11918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:11906800-11915000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:11906800-11915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:11907000-11917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:11907200-11914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:11907600-11918200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:11907800-11915000	Weak transcription	HMEC	breast
13	chr12:11908000-11918800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:11908200-11918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:11908400-11913400	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr12:11908600-11915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:11909200-11914600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:11909200-11915000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:11909200-11915800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:11909200-11919400	Weak transcription	Liver	Liver
22	chr12:11909400-11914800	Weak transcription	HSMM	muscle
23	chr12:11909400-11915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:11909400-11915400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:11909400-11915600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:11909400-11915800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:11909400-11916600	Weak transcription	NHDF-Ad	bronchial
28	chr12:11909600-11915000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:11909600-11915200	Weak transcription	Osteobl	bone
30	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
31	chr12:11909800-11914800	Weak transcription	A549	lung
32	chr12:11909800-11919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:11910600-11913400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:11910600-11916800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:11910800-11913400	Enhancers	Aorta	Aorta
36	chr12:11910800-11914400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:11911000-11915000	Weak transcription	Colonic Mucosa	Colon
38	chr12:11911000-11915200	Weak transcription	Esophagus	oesophagus
39	chr12:11911400-11913400	Enhancers	HSMMtube	muscle
40	chr12:11911600-11915000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:11911800-11914400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:11911800-11914400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:11911800-11914600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:11911800-11915000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:11911800-11915000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:11911800-11915200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:11912000-11914200	Weak transcription	Brain Anterior Caudate	brain
48	chr12:11912000-11914400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:11912000-11914400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:11912000-11914600	Weak transcription	Brain Angular Gyrus	brain

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