Variant report

Variant	esv3377079
Chromosome Location	chr5:106324653-106326559
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10477875	chr5:106324675-106324676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533338135	chr5:106324700-106324701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184830899	chr5:106324735-106324736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565634112	chr5:106324751-106324752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200363689	chr5:106324752-106324753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201554621	chr5:106324753-106324754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188374829	chr5:106324784-106324785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180738214	chr5:106324786-106324787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201063378	chr5:106324824-106324825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578004534	chr5:106324830-106324831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199750852	chr5:106324831-106324832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537383450	chr5:106324869-106324870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79189988	chr5:106324897-106324898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10477876	chr5:106324907-106324908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542275835	chr5:106325073-106325074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555603077	chr5:106325115-106325116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572361620	chr5:106325242-106325243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556644873	chr5:106325252-106325253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541038488	chr5:106325316-106325317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139882439	chr5:106325463-106325464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564184119	chr5:106325475-106325476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186383221	chr5:106325479-106325480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564653490	chr5:106325514-106325515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374508100	chr5:106325607-106325608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113104022	chr5:106325612-106325613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570466996	chr5:106325655-106325656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563888021	chr5:106325706-106325707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529478062	chr5:106325746-106325747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528302684	chr5:106325802-106325803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549032609	chr5:106325807-106325808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546768400	chr5:106325811-106325812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111555233	chr5:106325873-106325874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189675866	chr5:106325918-106325919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535425238	chr5:106325998-106325999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4597952	chr5:106326086-106326087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72784390	chr5:106326106-106326107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537328176	chr5:106326128-106326129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77213904	chr5:106326187-106326188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371536564	chr5:106326202-106326203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368153162	chr5:106326438-106326439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142874648	chr5:106326440-106326441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371696062	chr5:106326441-106326442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386508462	chr5:106326443-106326444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13165885	chr5:106326475-106326476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181277338	chr5:106326526-106326527	Weak transcription Enhancers	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106322200-106326800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:106322800-106328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:106323800-106325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:106323800-106336000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:106324600-106325400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:106325000-106327000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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