Variant report

Variant	nsv976577
Chromosome Location	chr12:11651148-11653761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541408140	chr12:11651154-11651155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11054325	chr12:11651175-11651176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2908833	chr12:11651195-11651196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2908832	chr12:11651201-11651202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150558720	chr12:11651222-11651223	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531095161	chr12:11651262-11651263	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549329012	chr12:11651299-11651300	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561221524	chr12:11651317-11651318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560667123	chr12:11651330-11651331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528740037	chr12:11651354-11651355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79625165	chr12:11651370-11651371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139592441	chr12:11651404-11651405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539106636	chr12:11651419-11651420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529712073	chr12:11651430-11651431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369647671	chr12:11651444-11651445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372742955	chr12:11651452-11651453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111946383	chr12:11651499-11651500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569659322	chr12:11651608-11651609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537214344	chr12:11651645-11651646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555622493	chr12:11651691-11651692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145630284	chr12:11651720-11651721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534907161	chr12:11651721-11651722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189248234	chr12:11651722-11651723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577924005	chr12:11651746-11651747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369609888	chr12:11651748-11651749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545083200	chr12:11651772-11651773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557395094	chr12:11651796-11651797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180725111	chr12:11651811-11651812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140214576	chr12:11651812-11651813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7305372	chr12:11651834-11651835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548345877	chr12:11651885-11651886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185684022	chr12:11651889-11651890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540519701	chr12:11651933-11651934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565237749	chr12:11651946-11651947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17745082	chr12:11652022-11652023	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs551104338	chr12:11652035-11652036	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373033121	chr12:11652050-11652051	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74638799	chr12:11652069-11652070	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6488423	chr12:11652089-11652090	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143999165	chr12:11652096-11652097	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111247704	chr12:11652097-11652098	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552641404	chr12:11652232-11652233	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190540178	chr12:11652237-11652238	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113603287	chr12:11652340-11652341	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185824888	chr12:11652351-11652352	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146430848	chr12:11652382-11652383	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140886841	chr12:11652416-11652417	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377268434	chr12:11652419-11652420	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557059475	chr12:11652445-11652446	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575632031	chr12:11652462-11652463	Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	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 lymphoblastic leukemia	19100363	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

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11640200-11652000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:11650400-11652000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:11650800-11651400	Enhancers	Primary B cells from cord blood	blood
4	chr12:11651000-11651200	Enhancers	GM12878-XiMat	blood
5	chr12:11651200-11651400	Flanking Active TSS	GM12878-XiMat	blood
6	chr12:11651400-11651800	Enhancers	GM12878-XiMat	blood
7	chr12:11651800-11652600	Enhancers	Brain Germinal Matrix	brain
8	chr12:11651800-11653200	Weak transcription	GM12878-XiMat	blood
9	chr12:11652000-11652200	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr12:11652000-11653600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr12:11652200-11655000	Active TSS	Brain Angular Gyrus	brain
12	chr12:11652600-11652800	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr12:11652600-11652800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr12:11652600-11652800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:11652600-11653000	Active TSS	Brain Anterior Caudate	brain
16	chr12:11652600-11653000	Active TSS	Brain Hippocampus Middle	brain
17	chr12:11652600-11655200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:11652800-11653000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr12:11652800-11653000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr12:11652800-11653000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr12:11652800-11653000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr12:11652800-11653000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:11652800-11653000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:11652800-11653000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:11652800-11653000	Active TSS	Brain Cingulate Gyrus	brain
26	chr12:11652800-11653000	Active TSS	Brain Germinal Matrix	brain
27	chr12:11652800-11653000	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr12:11652800-11653000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr12:11652800-11653200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:11652800-11653200	Enhancers	Spleen	Spleen
31	chr12:11652800-11653600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:11652800-11653800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:11652800-11653800	Enhancers	Esophagus	oesophagus
34	chr12:11652800-11654000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr12:11652800-11654000	Enhancers	Fetal Brain Male	brain
36	chr12:11652800-11654000	Enhancers	Gastric	stomach
37	chr12:11652800-11654000	Enhancers	Pancreas	Pancrea
38	chr12:11652800-11654000	Enhancers	Right Ventricle	heart
39	chr12:11652800-11654200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:11652800-11654200	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr12:11653000-11653200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:11653000-11653200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:11653000-11653200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:11653000-11653200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr12:11653000-11653200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:11653000-11653200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:11653000-11653200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:11653000-11653200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr12:11653000-11653200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr12:11653000-11653200	Enhancers	Fetal Muscle Leg	muscle

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