Variant report

Variant	nsv526438
Chromosome Location	chr12:45108184-45108480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10506256	chr12:45108184-45108185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181286017	chr12:45108188-45108189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111761517	chr12:45108243-45108244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541122038	chr12:45108264-45108265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565209853	chr12:45108266-45108267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185590964	chr12:45108304-45108305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369355065	chr12:45108384-45108385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74497791	chr12:45108397-45108398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374044004	chr12:45108417-45108418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367868312	chr12:45108424-45108425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141254342	chr12:45108425-45108426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148097352	chr12:45108443-45108444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17574839	chr12:45108480-45108481	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Ovarian cancer	21720365	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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45065000-45116000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:45081400-45115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45083200-45110000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:45088000-45110800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:45089000-45114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:45090600-45110200	Weak transcription	Brain Germinal Matrix	brain
8	chr12:45091200-45110800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:45101200-45114000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:45104600-45109200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:45105200-45117000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:45105400-45111000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45105800-45111200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:45106600-45108400	Enhancers	Fetal Brain Male	brain
15	chr12:45106600-45110600	Weak transcription	Fetal Brain Female	brain
16	chr12:45106800-45110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:45107600-45108400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:45107800-45108200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:45108400-45108800	Weak transcription	Fetal Brain Male	brain
20	chr12:45108400-45109400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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