Variant report

Variant	esv3469429
Chromosome Location	chr5:81008115-81008465
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	chr5:81002134..81004521-chr5:81007917..81010002,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141328482	chr5:81008181-81008182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201577443	chr5:81008182-81008183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113819812	chr5:81008184-81008185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371039839	chr5:81008313-81008314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572341338	chr5:81008427-81008428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190279445	chr5:81008434-81008435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565765852	chr5:81008439-81008440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535992144	chr5:81008440-81008441	Weak transcription 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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
6	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
8	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
10	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:80999400-81013000	Weak transcription	Ovary	ovary
15	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
16	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
18	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
20	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
21	chr5:81003400-81013200	Weak transcription	HSMM	muscle
22	chr5:81003800-81008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:81004000-81009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:81004800-81009400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
29	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
32	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:81006000-81013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:81006200-81010800	Weak transcription	Fetal Thymus	thymus
35	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
36	chr5:81006400-81009200	Enhancers	Colon Smooth Muscle	Colon
37	chr5:81006400-81010800	Weak transcription	GM12878-XiMat	blood
38	chr5:81006400-81011800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:81006400-81013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:81006600-81014200	Weak transcription	Brain Angular Gyrus	brain
41	chr5:81007200-81008200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:81007200-81012000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:81007400-81013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:81007600-81008200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr5:81007800-81011800	Weak transcription	Primary T cells from cord blood	blood
46	chr5:81008000-81008200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:81008000-81010800	Weak transcription	Dnd41	blood
48	chr5:81008200-81008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:81008400-81014200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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