Variant report

Variant	esv3447380
Chromosome Location	chr5:106323553-106327451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577943128	chr5:106323563-106323564	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546282623	chr5:106323608-106323609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575169499	chr5:106323624-106323625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192920488	chr5:106323632-106323633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57701476	chr5:106323648-106323649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377304771	chr5:106323673-106323674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546688919	chr5:106323675-106323676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548572384	chr5:106323676-106323677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185092671	chr5:106323767-106323768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77954729	chr5:106323831-106323832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535654486	chr5:106323903-106323904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547719984	chr5:106323921-106323922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144182963	chr5:106323994-106323995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145630175	chr5:106324024-106324025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148494981	chr5:106324053-106324054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35418541	chr5:106324071-106324072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189053511	chr5:106324083-106324084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373009916	chr5:106324096-106324097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555336466	chr5:106324109-106324110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377350826	chr5:106324128-106324129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557412641	chr5:106324191-106324192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142684384	chr5:106324282-106324283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573123271	chr5:106324288-106324289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150993454	chr5:106324289-106324290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540394567	chr5:106324339-106324340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76804396	chr5:106324385-106324386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192652292	chr5:106324388-106324389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543643771	chr5:106324417-106324418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79882553	chr5:106324467-106324468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60003178	chr5:106324491-106324492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58378716	chr5:106324504-106324505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs71934062	chr5:106324547-106324548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386690828	chr5:106324548-106324549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112445006	chr5:106324550-106324551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113299862	chr5:106324551-106324552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142147817	chr5:106324562-106324563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115371666	chr5:106324566-106324567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527701541	chr5:106324571-106324572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547657114	chr5:106324590-106324591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564445766	chr5:106324599-106324600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533310772	chr5:106324600-106324601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549956002	chr5:106324608-106324609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570203799	chr5:106324621-106324622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541372798	chr5:106324648-106324649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10477875	chr5:106324675-106324676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533338135	chr5:106324700-106324701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184830899	chr5:106324735-106324736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565634112	chr5:106324751-106324752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200363689	chr5:106324752-106324753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201554621	chr5:106324753-106324754	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106321000-106323800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:106321200-106323600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:106321200-106323800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:106321200-106324000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:106322200-106326800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:106322400-106324400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:106322600-106323600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:106322600-106323800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:106322800-106324000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:106322800-106328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:106323600-106323800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:106323600-106324400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:106323800-106324000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:106323800-106325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:106323800-106336000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:106324000-106324200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:106324200-106324600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:106324400-106324600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:106324600-106325400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:106325000-106327000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:106327000-106327200	Enhancers	H1 Cell Line	embryonic stem cell

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