Variant report

Variant	esv3388330
Chromosome Location	chr5:106231103-106233251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549185986	chr5:106231109-106231110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559930770	chr5:106231138-106231139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142265453	chr5:106231147-106231148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368146039	chr5:106231167-106231168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188420761	chr5:106231177-106231178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537707368	chr5:106231191-106231192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550617937	chr5:106231192-106231193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201372774	chr5:106231207-106231208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368093036	chr5:106231210-106231211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567251317	chr5:106231216-106231217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181579497	chr5:106231225-106231226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552786486	chr5:106231265-106231266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185688252	chr5:106231322-106231323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538456363	chr5:106231325-106231326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558676005	chr5:106231366-106231367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575184371	chr5:106231422-106231423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544071721	chr5:106231457-106231458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147469123	chr5:106231503-106231504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563368831	chr5:106231543-106231544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544725536	chr5:106231551-106231552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73204113	chr5:106231575-106231576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75108170	chr5:106231593-106231594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1909743	chr5:106231645-106231646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559299356	chr5:106231652-106231653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528545308	chr5:106231653-106231654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565177949	chr5:106231669-106231670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75737533	chr5:106231711-106231712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1909744	chr5:106231716-106231717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531262138	chr5:106231720-106231721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140072123	chr5:106231738-106231739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139874990	chr5:106231779-106231780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2964615	chr5:106231786-106231787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535549154	chr5:106231791-106231792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535870310	chr5:106231806-106231807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373036175	chr5:106231831-106231832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201581665	chr5:106231835-106231836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397951939	chr5:106231843-106231844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28495553	chr5:106231844-106231845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28698817	chr5:106231846-106231847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374886134	chr5:106231869-106231870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566450279	chr5:106231909-106231910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202178812	chr5:106231910-106231911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200310706	chr5:106231912-106231913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147854356	chr5:106231924-106231925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72005598	chr5:106231938-106231939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376312697	chr5:106231948-106231949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370389985	chr5:106231949-106231950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530835630	chr5:106231957-106231958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13153296	chr5:106231960-106231961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543699078	chr5:106231962-106231963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106230200-106231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:106230200-106231400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:106230600-106231400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:106230800-106231200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:106231400-106233400	Weak transcription	Primary monocytes fromperipheralblood	blood

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