Variant report

Variant	nsv558752
Chromosome Location	chr12:45357804-45386398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45367140..45370350-chr12:45371616..45375145,3	K562	blood:
2	chr12:45366332..45368097-chr12:45514780..45516888,12	MCF-7	breast:
3	chr12:45364370..45366746-chr12:45513644..45516185,2	MCF-7	breast:
4	chr12:45366306..45367231-chr12:45516422..45517207,2	MCF-7	breast:
5	chr12:45367140..45370350-chr12:45371616..45375145,3	K562	blood:
6	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:
7	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571478571	chr12:45361907-45361908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140792898	chr12:45361946-45361947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200359738	chr12:45361953-45361954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs268045	chr12:45361954-45361955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578019052	chr12:45361955-45361956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545236134	chr12:45361957-45361958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201051740	chr12:45361958-45361959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139729746	chr12:45361960-45361961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530570436	chr12:45361961-45361962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548886629	chr12:45361962-45361963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397976570	chr12:45361963-45361964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560813143	chr12:45361980-45361981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528106350	chr12:45362016-45362017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144522991	chr12:45362046-45362047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186265229	chr12:45362049-45362050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs380472	chr12:45362064-45362065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191818647	chr12:45362079-45362080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145598842	chr12:45362129-45362130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75041419	chr12:45362162-45362163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139985561	chr12:45362173-45362174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528027641	chr12:45362174-45362175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368265070	chr12:45362195-45362196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371961759	chr12:45362196-45362197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536486844	chr12:45362210-45362211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537616723	chr12:45362215-45362216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77753965	chr12:45362226-45362227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57726055	chr12:45362271-45362272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183728898	chr12:45362313-45362314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186630274	chr12:45362367-45362368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73288970	chr12:45362509-45362510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554655506	chr12:45362547-45362548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369746179	chr12:45362574-45362575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577928030	chr12:45362597-45362598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556294973	chr12:45362626-45362627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545173946	chr12:45362633-45362634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372138960	chr12:45362667-45362668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563775305	chr12:45362679-45362680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376688030	chr12:45362686-45362687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191523684	chr12:45362741-45362742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578003174	chr12:45362803-45362804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10880718	chr12:45362806-45362807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs142773240	chr12:45362889-45362890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182607489	chr12:45362898-45362899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546612746	chr12:45362936-45362937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564739679	chr12:45362952-45362953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151072306	chr12:45363033-45363034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550428611	chr12:45363041-45363042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34511615	chr12:45363076-45363077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79887906	chr12:45363085-45363086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79339842	chr12:45363086-45363087	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45361800-45364200	Enhancers	Dnd41	blood
2	chr12:45362000-45363200	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:45362200-45364000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:45362400-45363200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:45362400-45363400	Enhancers	Primary T cells from cord blood	blood
8	chr12:45362800-45363200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:45366800-45367200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:45369200-45371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:45369800-45370600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:45370600-45371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:45371800-45372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:45372000-45372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:45372400-45372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:45386000-45387800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:45386200-45387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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