Variant report

Variant	esv3384481
Chromosome Location	chr5:80750446-80752444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552683733	chr5:80750449-80750450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537554518	chr5:80750453-80750454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200812832	chr5:80750499-80750500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547842710	chr5:80750509-80750510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9293274	chr5:80750530-80750531	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147574846	chr5:80750535-80750536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373105272	chr5:80750536-80750537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537748473	chr5:80750582-80750583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572679208	chr5:80750685-80750686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188114894	chr5:80750802-80750803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559214650	chr5:80750862-80750863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180954579	chr5:80750875-80750876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575860790	chr5:80750880-80750881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544726592	chr5:80750909-80750910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561358327	chr5:80750952-80750953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574805989	chr5:80750966-80750967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199532499	chr5:80750981-80750982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375792044	chr5:80750982-80750983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560505399	chr5:80750987-80750988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398109088	chr5:80750991-80750992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532327000	chr5:80751044-80751045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546034664	chr5:80751063-80751064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562355298	chr5:80751088-80751089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557640401	chr5:80751215-80751216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574104023	chr5:80751328-80751329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542640563	chr5:80751370-80751371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531395922	chr5:80751395-80751396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537363119	chr5:80751444-80751445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370761139	chr5:80751445-80751446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112555415	chr5:80751453-80751454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371825578	chr5:80751488-80751489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547930454	chr5:80751492-80751493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567792853	chr5:80751505-80751506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527315424	chr5:80751521-80751522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113009024	chr5:80751555-80751556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74785332	chr5:80751594-80751595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538967356	chr5:80751646-80751647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187145852	chr5:80751706-80751707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559826049	chr5:80751712-80751713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192487554	chr5:80751773-80751774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34066164	chr5:80751865-80751866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538436687	chr5:80751870-80751871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573254213	chr5:80751906-80751907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369266147	chr5:80751924-80751925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555136470	chr5:80751933-80751934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574853263	chr5:80751976-80751977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77310952	chr5:80752022-80752023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150077864	chr5:80752027-80752028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577132334	chr5:80752056-80752057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545735635	chr5:80752068-80752069	Weak transcription Strong transcription	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
4	chr5:80716200-80767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:80716800-80768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:80717200-80769200	Weak transcription	Right Ventricle	heart
7	chr5:80718000-80768800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:80718400-80752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:80718400-80754800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:80718400-80755000	Weak transcription	GM12878-XiMat	blood
11	chr5:80719000-80769200	Weak transcription	HSMMtube	muscle
12	chr5:80722000-80754800	Weak transcription	HSMM	muscle
13	chr5:80722400-80754800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:80722400-80755200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:80722400-80768800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:80722400-80768800	Weak transcription	Fetal Brain Female	brain
17	chr5:80722600-80767600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:80722600-80768000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:80722600-80768200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:80722600-80769000	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:80722600-80769000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:80722600-80769000	Weak transcription	Fetal Brain Male	brain
23	chr5:80722600-80769000	Weak transcription	Psoas Muscle	Psoas
24	chr5:80722600-80769200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:80722800-80755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:80725400-80755200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:80729600-80769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:80729800-80769200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:80730600-80767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:80731400-80768800	Weak transcription	Fetal Kidney	kidney
31	chr5:80731800-80769200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:80733600-80756000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
34	chr5:80736000-80771200	Weak transcription	NHDF-Ad	bronchial
35	chr5:80736400-80768800	Weak transcription	Fetal Intestine Large	intestine
36	chr5:80738200-80768400	Weak transcription	Brain Germinal Matrix	brain
37	chr5:80739200-80769000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:80739600-80768800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:80739800-80751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:80739800-80758600	Strong transcription	Dnd41	blood
41	chr5:80739800-80773200	Strong transcription	Fetal Thymus	thymus
42	chr5:80740400-80768000	Weak transcription	Left Ventricle	heart
43	chr5:80740400-80769400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:80742400-80753400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:80743000-80753000	Weak transcription	Brain Substantia Nigra	brain
46	chr5:80744000-80754800	Weak transcription	Brain Anterior Caudate	brain
47	chr5:80745200-80771400	Weak transcription	Gastric	stomach
48	chr5:80746800-80769000	Weak transcription	Pancreas	Pancrea
49	chr5:80747000-80750600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:80747000-80754400	Weak transcription	A549	lung

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