Variant report

Variant	nsv976578
Chromosome Location	chr12:11906375-11907311
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	chr12:11800154..11802196-chr12:11905804..11907326,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568837212	chr12:11906434-11906435	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs559374449	chr12:11906470-11906471	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs554671079	chr12:11906509-11906510	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs369793793	chr12:11906512-11906513	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs192328579	chr12:11906518-11906519	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs538478186	chr12:11906524-11906525	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs12816113	chr12:11906550-11906551	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs536751181	chr12:11906655-11906656	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs551592923	chr12:11906656-11906657	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs116212638	chr12:11906692-11906693	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs537770122	chr12:11906699-11906700	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs549375999	chr12:11906700-11906701	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs3782132	chr12:11906780-11906781	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs563152496	chr12:11906808-11906809	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs2856339	chr12:11906819-11906820	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572214691	chr12:11906827-11906828	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs141159536	chr12:11906830-11906831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs558014895	chr12:11906839-11906840	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs576130571	chr12:11906862-11906863	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs575080358	chr12:11906884-11906885	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs3782133	chr12:11906899-11906900	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs184280445	chr12:11906904-11906905	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs573982266	chr12:11906907-11906908	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs377025321	chr12:11906908-11906909	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs369725960	chr12:11906973-11906974	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs369130581	chr12:11906991-11906992	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs190447694	chr12:11906997-11906998	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs192428960	chr12:11907013-11907014	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533278479	chr12:11907032-11907033	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184629514	chr12:11907063-11907064	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545727900	chr12:11907072-11907073	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565087882	chr12:11907110-11907111	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2051526	chr12:11907128-11907129	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs530965287	chr12:11907161-11907162	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77092796	chr12:11907162-11907163	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567909328	chr12:11907168-11907169	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377548897	chr12:11907172-11907173	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3782135	chr12:11907205-11907206	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2051527	chr12:11907229-11907230	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79151250	chr12:11907248-11907249	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557535721	chr12:11907255-11907256	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80077248	chr12:11907256-11907257	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377013494	chr12:11907265-11907266	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:11885800-11911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:11894600-11908400	Weak transcription	Psoas Muscle	Psoas
5	chr12:11894800-11906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:11895000-11906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:11895000-11912600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:11895600-11908800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:11897000-11906400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:11897000-11906400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:11897000-11908800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:11899400-11908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:11899400-11908200	Weak transcription	HSMMtube	muscle
15	chr12:11899400-11908400	Weak transcription	HSMM	muscle
16	chr12:11899600-11906800	Weak transcription	NH-A	brain
17	chr12:11900000-11907000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:11900400-11910600	Weak transcription	Colonic Mucosa	Colon
19	chr12:11900600-11915000	Weak transcription	NHEK	skin
20	chr12:11901200-11906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:11901400-11911000	Weak transcription	Fetal Lung	lung
22	chr12:11901800-11906600	Weak transcription	HUVEC	blood vessel
23	chr12:11902800-11910600	Weak transcription	Brain Angular Gyrus	brain
24	chr12:11902800-11910600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:11902800-11910600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:11903200-11910200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:11903400-11906400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:11903400-11906600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:11903400-11910400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:11904000-11907000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:11904000-11908600	Genic enhancers	Fetal Thymus	thymus
32	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:11904200-11906400	Enhancers	Stomach Mucosa	stomach
34	chr12:11904200-11906600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:11904200-11906800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:11904200-11906800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:11904200-11907000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:11904200-11907000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:11904200-11913000	Strong transcription	Dnd41	blood
40	chr12:11904400-11906400	Genic enhancers	Primary B cells from cord blood	blood
41	chr12:11904400-11906600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:11904400-11910600	Genic enhancers	GM12878-XiMat	blood
43	chr12:11904800-11906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:11905000-11906800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:11905200-11906400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:11905200-11906400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:11905200-11906800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:11905200-11906800	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr12:11905200-11907200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:11905200-11907200	Strong transcription	Fetal Intestine Small	intestine

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