Variant report

Variant	esv3322074
Chromosome Location	chr5:100649703-100650851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181874912	chr5:100649760-100649761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559407378	chr5:100649803-100649804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200588146	chr5:100649831-100649832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78606484	chr5:100649862-100649863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372592955	chr5:100649870-100649871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77635361	chr5:100649882-100649883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186949491	chr5:100649884-100649885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79016198	chr5:100649950-100649951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544601265	chr5:100649979-100649980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs56323069	chr5:100650016-100650017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34947639	chr5:100650017-100650018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200797139	chr5:100650077-100650078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369705610	chr5:100650086-100650087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556638612	chr5:100650087-100650088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568718451	chr5:100650096-100650097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200512081	chr5:100650101-100650102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115047053	chr5:100650102-100650103	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553720496	chr5:100650115-100650116	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530385324	chr5:100650151-100650152	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146216079	chr5:100650197-100650198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376412000	chr5:100650198-100650199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11369790	chr5:100650201-100650202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs202176929	chr5:100650202-100650203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200390258	chr5:100650203-100650204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200938223	chr5:100650204-100650205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201771594	chr5:100650206-100650207	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs58401835	chr5:100650211-100650212	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199605736	chr5:100650227-100650228	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563043656	chr5:100650228-100650229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201236338	chr5:100650242-100650243	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs71620637	chr5:100650260-100650261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555584711	chr5:100650289-100650290	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191368799	chr5:100650314-100650315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565737348	chr5:100650352-100650353	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76287057	chr5:100650368-100650369	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538459139	chr5:100650423-100650424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73170051	chr5:100650490-100650491	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115230440	chr5:100650511-100650512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543581697	chr5:100650525-100650526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs55697368	chr5:100650565-100650566	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573846373	chr5:100650569-100650570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554438150	chr5:100650582-100650583	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112475457	chr5:100650583-100650584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs72782848	chr5:100650592-100650593	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545064472	chr5:100650604-100650605	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563396409	chr5:100650681-100650682	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs377613612	chr5:100650754-100650755	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550312502	chr5:100650810-100650811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562163307	chr5:100650845-100650846	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	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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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