Variant report

Variant	nsv558700
Chromosome Location	chr12:41665279-41710912
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	chr12:41671648..41672619-chr12:42417775..42418485,2	MCF-7	breast:
2	chr12:41670983..41671656-chr12:42057034..42057781,2	MCF-7	breast:

Extended variants
information (count: 1549 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2116131	chr12:41665279-41665280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12312492	chr12:41665293-41665294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545799937	chr12:41665321-41665322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563999097	chr12:41665336-41665337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78262137	chr12:41665370-41665371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549212347	chr12:41665399-41665400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113125863	chr12:41665453-41665454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1367607	chr12:41665476-41665477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369797005	chr12:41665493-41665494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561987882	chr12:41665531-41665532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111869841	chr12:41665596-41665597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529542995	chr12:41665632-41665633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573222513	chr12:41665671-41665672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566371213	chr12:41665703-41665704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558126261	chr12:41665759-41665760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182809208	chr12:41665789-41665790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561922645	chr12:41665801-41665802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529079688	chr12:41665842-41665843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202228130	chr12:41665859-41665860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35359476	chr12:41665862-41665863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372905297	chr12:41665863-41665864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188325224	chr12:41665935-41665936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533028971	chr12:41665971-41665972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374261509	chr12:41665988-41665989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73120972	chr12:41665998-41665999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73120974	chr12:41666001-41666002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147402547	chr12:41666010-41666011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139699987	chr12:41666035-41666036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555973697	chr12:41666077-41666078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114617111	chr12:41666083-41666084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192222112	chr12:41666087-41666088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145286327	chr12:41666097-41666098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543162295	chr12:41666227-41666228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561448474	chr12:41666263-41666264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147634617	chr12:41666270-41666271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566377582	chr12:41666271-41666272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574319302	chr12:41666311-41666312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559765666	chr12:41666322-41666323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528015842	chr12:41666329-41666330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149116597	chr12:41666335-41666336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549271243	chr12:41666361-41666362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539723358	chr12:41666362-41666363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551469909	chr12:41666406-41666407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570072406	chr12:41666453-41666454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55877007	chr12:41666521-41666522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538074625	chr12:41666533-41666534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375688239	chr12:41666596-41666597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182754738	chr12:41666606-41666607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556703531	chr12:41666676-41666677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535616932	chr12:41666709-41666710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41661200-41668400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41667600-41668800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:41667600-41669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:41667800-41668600	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:41668400-41668600	Enhancers	Fetal Kidney	kidney
6	chr12:41668400-41669000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:41668400-41669000	Enhancers	A549	lung
8	chr12:41668400-41669200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:41668800-41671000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:41669000-41671200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:41669200-41669600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:41669200-41669600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:41669600-41671000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:41669600-41671000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:41669800-41670000	Enhancers	Fetal Kidney	kidney
16	chr12:41670600-41672200	Enhancers	Brain Germinal Matrix	brain
17	chr12:41670800-41671000	Enhancers	Brain Substantia Nigra	brain
18	chr12:41670800-41671400	Enhancers	Fetal Brain Male	brain
19	chr12:41671000-41671200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:41671000-41671200	Active TSS	Brain Angular Gyrus	brain
21	chr12:41671000-41671200	Active TSS	Brain Anterior Caudate	brain
22	chr12:41671000-41671200	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:41671000-41671200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:41671000-41671200	Active TSS	Fetal Kidney	kidney
25	chr12:41671000-41671200	Enhancers	Ovary	ovary
26	chr12:41671000-41671400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:41671000-41671400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:41671000-41671400	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:41671000-41671400	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:41671000-41671400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:41671000-41671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:41671000-41671400	Active TSS	Brain Hippocampus Middle	brain
33	chr12:41671000-41671400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:41671000-41671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:41671000-41671400	Enhancers	Fetal Heart	heart
36	chr12:41671000-41671400	Enhancers	Fetal Muscle Leg	muscle
37	chr12:41671000-41671400	Enhancers	Left Ventricle	heart
38	chr12:41671000-41671600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:41671000-41671600	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr12:41671000-41671600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr12:41671200-41671400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:41671200-41671400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr12:41671200-41671400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:41671200-41671400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr12:41671200-41671400	Flanking Active TSS	Fetal Kidney	kidney
46	chr12:41671200-41671400	Enhancers	Fetal Stomach	stomach
47	chr12:41671200-41671600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:41671200-41671600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:41671200-41671600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:41671200-41671600	Flanking Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links