Variant report

Variant	nsv469365
Chromosome Location	chr12:45353367-45388817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45364370..45366746-chr12:45513644..45516185,2	MCF-7	breast:
2	chr12:45366332..45368097-chr12:45514780..45516888,12	MCF-7	breast:
3	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:
4	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:
5	chr12:45342280..45342887-chr12:45354890..45355754,2	MCF-7	breast:
6	chr1:241803684..241804232-chr12:45354058..45354559,2	Hela-S3	cervix:
7	chr12:45367140..45370350-chr12:45371616..45375145,3	K562	blood:
8	chr12:45366306..45367231-chr12:45516422..45517207,2	MCF-7	breast:
9	chr12:45367140..45370350-chr12:45371616..45375145,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000054277	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564502026	chr12:45353928-45353929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78250679	chr12:45353976-45353977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573701700	chr12:45354035-45354036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528515746	chr12:45354075-45354076	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142529109	chr12:45354159-45354160	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540736128	chr12:45354180-45354181	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115594146	chr12:45354195-45354196	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547298056	chr12:45354209-45354210	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189560202	chr12:45354253-45354254	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181825998	chr12:45354279-45354280	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367956341	chr12:45354288-45354289	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564659496	chr12:45354300-45354301	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184680004	chr12:45354317-45354318	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545382193	chr12:45354388-45354389	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1118479	chr12:45354399-45354400	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1118480	chr12:45354406-45354407	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1118481	chr12:45354469-45354470	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs529234450	chr12:45354482-45354483	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544956277	chr12:45354485-45354486	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373598067	chr12:45354496-45354497	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189049245	chr12:45354516-45354517	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566152692	chr12:45354517-45354518	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539661872	chr12:45354556-45354557	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551587242	chr12:45354571-45354572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569880420	chr12:45354584-45354585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11612170	chr12:45354661-45354662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181426240	chr12:45354679-45354680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573584642	chr12:45354737-45354738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368682240	chr12:45354739-45354740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139109377	chr12:45354769-45354770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552665140	chr12:45354777-45354778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577301639	chr12:45354804-45354805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368359835	chr12:45354829-45354830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186588658	chr12:45354836-45354837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564696545	chr12:45354858-45354859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576702251	chr12:45354873-45354874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544108104	chr12:45354911-45354912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373183755	chr12:45354913-45354914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143974289	chr12:45354972-45354973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571478571	chr12:45361907-45361908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140792898	chr12:45361946-45361947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200359738	chr12:45361953-45361954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs268045	chr12:45361954-45361955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578019052	chr12:45361955-45361956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545236134	chr12:45361957-45361958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201051740	chr12:45361958-45361959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139729746	chr12:45361960-45361961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530570436	chr12:45361961-45361962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548886629	chr12:45361962-45361963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397976570	chr12:45361963-45361964	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45353800-45354600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:45353800-45354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:45354000-45354800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:45354000-45355000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:45354000-45355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:45354200-45354400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45354200-45354800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:45354200-45354800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:45354200-45354800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:45354200-45354800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:45354200-45354800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:45354200-45354800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:45354200-45355000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:45361800-45364200	Enhancers	Dnd41	blood
15	chr12:45362000-45363200	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:45362200-45364000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:45362400-45363200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:45362400-45363400	Enhancers	Primary T cells from cord blood	blood
21	chr12:45362800-45363200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:45366800-45367200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:45369200-45371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:45369800-45370600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:45370600-45371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:45371800-45372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:45372000-45372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:45372400-45372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:45386000-45387800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:45386200-45387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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