Variant report

Variant	nsv469367
Chromosome Location	chr12:45363545-45400614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 527 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs268044	chr12:45363545-45363546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140643601	chr12:45363581-45363582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557208511	chr12:45363620-45363621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575309817	chr12:45363723-45363724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186980328	chr12:45363768-45363769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55786085	chr12:45363771-45363772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532179125	chr12:45363774-45363775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554333026	chr12:45363779-45363780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547351439	chr12:45363780-45363781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369101776	chr12:45363788-45363789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572662875	chr12:45363804-45363805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540161714	chr12:45363848-45363849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565162178	chr12:45363864-45363865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532030105	chr12:45363886-45363887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544181014	chr12:45363907-45363908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191451183	chr12:45363968-45363969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529811592	chr12:45363999-45364000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377050132	chr12:45364012-45364013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150487665	chr12:45364023-45364024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567861897	chr12:45364042-45364043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78884038	chr12:45364095-45364096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73288975	chr12:45364114-45364115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548411551	chr12:45364140-45364141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527729357	chr12:45364154-45364155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538682757	chr12:45364182-45364183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11182770	chr12:45364184-45364185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149952265	chr12:45366810-45366811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371864662	chr12:45366811-45366812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116942186	chr12:45366828-45366829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11182771	chr12:45366870-45366871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116486758	chr12:45366886-45366887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537765218	chr12:45366892-45366893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139191435	chr12:45366898-45366899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565689434	chr12:45366912-45366913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373609988	chr12:45367058-45367059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549993235	chr12:45367081-45367082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539030916	chr12:45367104-45367105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373085350	chr12:45367112-45367113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138574673	chr12:45367133-45367134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73288980	chr12:45367143-45367144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372327923	chr12:45367144-45367145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544453166	chr12:45367149-45367150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192104209	chr12:45369233-45369234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530586078	chr12:45369241-45369242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184196033	chr12:45369272-45369273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188601386	chr12:45369316-45369317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552371108	chr12:45369353-45369354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376492162	chr12:45369357-45369358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377651550	chr12:45369376-45369377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571604883	chr12:45369385-45369386	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	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45361800-45364200	Enhancers	Dnd41	blood
2	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:45362200-45364000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:45366800-45367200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:45369200-45371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:45369800-45370600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:45370600-45371800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:45371800-45372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:45372000-45372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:45372400-45372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:45386000-45387800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:45386200-45387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:45393000-45412600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:45393200-45394600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:45394400-45394600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr12:45394600-45406000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:45398000-45398400	Enhancers	HUES6 Cell Line	embryonic stem cell

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