Variant report

Variant	nsv327744
Chromosome Location	chr5:80854334-80854349
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	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
2	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73766270	chr5:80854334-80854335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115162039	chr5:80854339-80854340	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
3	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung
4	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80835200-80863000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
9	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:80840800-80883400	Weak transcription	HSMM	muscle
12	chr5:80840800-80884600	Weak transcription	Ovary	ovary
13	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:80845800-80862000	Weak transcription	Thymus	Thymus
15	chr5:80845800-80863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:80846600-80860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:80848000-80856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart
20	chr5:80849400-80856200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:80850000-80860000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:80850000-80862000	Weak transcription	Primary B cells from cord blood	blood
23	chr5:80850200-80862000	Weak transcription	Primary T cells from cord blood	blood
24	chr5:80850800-80864000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:80850800-80866800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:80853800-80854600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:80853800-80854800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:80854200-80854400	Genic enhancers	Fetal Thymus	thymus
29	chr5:80854200-80859000	Weak transcription	Dnd41	blood
30	chr5:80854200-80859800	Weak transcription	Primary hematopoietic stem cells	blood

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