Variant report

Variant	esv3471562
Chromosome Location	chr5:94332599-94334051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543116240	chr5:94332659-94332660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368855634	chr5:94332680-94332681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565993598	chr5:94332780-94332781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562793862	chr5:94332829-94332830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191052389	chr5:94332883-94332884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183900840	chr5:94332920-94332921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551253224	chr5:94332963-94332964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186837170	chr5:94332988-94332989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140026966	chr5:94333027-94333028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371330258	chr5:94333051-94333052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527626495	chr5:94333088-94333089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548966653	chr5:94333106-94333107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547281187	chr5:94333151-94333152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142782965	chr5:94333179-94333180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535828379	chr5:94333182-94333183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546267267	chr5:94333202-94333203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151044984	chr5:94333215-94333216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62364693	chr5:94333216-94333217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558410810	chr5:94333231-94333232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578213164	chr5:94333248-94333249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140949753	chr5:94333263-94333264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191733919	chr5:94333300-94333301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73774878	chr5:94333305-94333306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150262858	chr5:94333337-94333338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571695368	chr5:94333348-94333349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146881729	chr5:94333399-94333400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140640516	chr5:94333405-94333406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545097198	chr5:94333427-94333428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564778324	chr5:94333436-94333437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72777368	chr5:94333437-94333438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562946385	chr5:94333452-94333453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547293426	chr5:94333474-94333475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567423313	chr5:94333483-94333484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183127260	chr5:94333486-94333487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549549195	chr5:94333520-94333521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72777369	chr5:94333537-94333538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186938548	chr5:94333599-94333600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374091565	chr5:94333620-94333621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59182861	chr5:94333654-94333655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574032706	chr5:94333727-94333728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191433872	chr5:94333760-94333761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542896797	chr5:94333770-94333771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571877931	chr5:94333780-94333781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534341355	chr5:94333792-94333793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554526291	chr5:94333812-94333813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576531892	chr5:94333878-94333879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60244231	chr5:94333912-94333913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369892935	chr5:94333993-94333994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145844867	chr5:94333995-94333996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12517172	chr5:94334004-94334005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94301200-94337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94313800-94337000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:94319800-94346600	Weak transcription	HUVEC	blood vessel
4	chr5:94320400-94348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:94322400-94334200	Weak transcription	Gastric	stomach
6	chr5:94325600-94337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:94325800-94337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:94326000-94339400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:94327000-94339200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:94327200-94339000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:94330400-94334200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:94330400-94336600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:94331200-94333000	Weak transcription	Stomach Mucosa	stomach
14	chr5:94331400-94334400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:94331600-94334200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:94331600-94334200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:94332200-94334200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:94332200-94334200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:94333000-94333600	Enhancers	Stomach Mucosa	stomach
20	chr5:94333600-94334000	Weak transcription	Stomach Mucosa	stomach
21	chr5:94334000-94334200	Enhancers	Stomach Mucosa	stomach
22	chr5:94334000-94334600	Enhancers	HepG2	liver

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