Variant report

Variant	esv12594
Chromosome Location	chr5:105003859-105007711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183709631	chr5:105003944-105003945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189580418	chr5:105003971-105003972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181224296	chr5:105003976-105003977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571799531	chr5:105004008-105004009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368574045	chr5:105004016-105004017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373361978	chr5:105004056-105004057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544198675	chr5:105004062-105004063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560895527	chr5:105004064-105004065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185046102	chr5:105004069-105004070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189980582	chr5:105004102-105004103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372452337	chr5:105004104-105004105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144252327	chr5:105004176-105004177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138197130	chr5:105004183-105004184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376508637	chr5:105004215-105004216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562610905	chr5:105004320-105004321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531716262	chr5:105004338-105004339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181610680	chr5:105004359-105004360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186320787	chr5:105004364-105004365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536538739	chr5:105004372-105004373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191114555	chr5:105004401-105004402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143781092	chr5:105004404-105004405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56690453	chr5:105004440-105004441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550533218	chr5:105004449-105004450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397747274	chr5:105004454-105004455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538419757	chr5:105004469-105004470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558808167	chr5:105004509-105004510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575388135	chr5:105004535-105004536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571647347	chr5:105004537-105004538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528501541	chr5:105004541-105004542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554592074	chr5:105004609-105004610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182007444	chr5:105004633-105004634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540224647	chr5:105004655-105004656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560580934	chr5:105004677-105004678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577484397	chr5:105004714-105004715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112236974	chr5:105004718-105004719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370316839	chr5:105004757-105004758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539082980	chr5:105004760-105004761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147180880	chr5:105004870-105004871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185890573	chr5:105004887-105004888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112956670	chr5:105004906-105004907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554299503	chr5:105004987-105004988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572512324	chr5:105004996-105004997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548317553	chr5:105005041-105005042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561745184	chr5:105005044-105005045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527641600	chr5:105005106-105005107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28867389	chr5:105005111-105005112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547783458	chr5:105005123-105005124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376546009	chr5:105005183-105005184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566625398	chr5:105005198-105005199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528694039	chr5:105005248-105005249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Chronic lymphocytic leukemia	20421269	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105003800-105010400	Weak transcription	Aorta	Aorta
2	chr5:105005200-105006600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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