Variant report

Variant	esv3468515
Chromosome Location	chr5:106322753-106328351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs533304093	chr5:106322839-106322840	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73205914	chr5:106322863-106322864	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192637275	chr5:106322887-106322888	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139870207	chr5:106322900-106322901	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35212391	chr5:106322921-106322922	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73205915	chr5:106322953-106322954	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532646988	chr5:106322966-106322967	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142074908	chr5:106323002-106323003	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569256582	chr5:106323053-106323054	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570688218	chr5:106323151-106323152	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531745696	chr5:106323161-106323162	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74845473	chr5:106323224-106323225	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568738773	chr5:106323261-106323262	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183085881	chr5:106323293-106323294	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554341885	chr5:106323295-106323296	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372165004	chr5:106323300-106323301	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539131921	chr5:106323305-106323306	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531262710	chr5:106323324-106323325	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553316562	chr5:106323328-106323329	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555856584	chr5:106323352-106323353	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62378965	chr5:106323361-106323362	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146325858	chr5:106323396-106323397	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555335209	chr5:106323462-106323463	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572297867	chr5:106323471-106323472	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535434267	chr5:106323474-106323475	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139536039	chr5:106323504-106323505	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528466024	chr5:106323533-106323534	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188115623	chr5:106323543-106323544	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577943128	chr5:106323563-106323564	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546282623	chr5:106323608-106323609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575169499	chr5:106323624-106323625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192920488	chr5:106323632-106323633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57701476	chr5:106323648-106323649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377304771	chr5:106323673-106323674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546688919	chr5:106323675-106323676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548572384	chr5:106323676-106323677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185092671	chr5:106323767-106323768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77954729	chr5:106323831-106323832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535654486	chr5:106323903-106323904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547719984	chr5:106323921-106323922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144182963	chr5:106323994-106323995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145630175	chr5:106324024-106324025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148494981	chr5:106324053-106324054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35418541	chr5:106324071-106324072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189053511	chr5:106324083-106324084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373009916	chr5:106324096-106324097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555336466	chr5:106324109-106324110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377350826	chr5:106324128-106324129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557412641	chr5:106324191-106324192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142684384	chr5:106324282-106324283	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106321000-106322800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:106321000-106323800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:106321200-106323600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:106321200-106323800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:106321200-106324000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:106321400-106322800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:106322200-106326800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:106322400-106324400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:106322600-106323600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:106322600-106323800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:106322800-106324000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:106322800-106328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:106323600-106323800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:106323600-106324400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:106323800-106324000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:106323800-106325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:106323800-106336000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:106324000-106324200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:106324200-106324600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:106324400-106324600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:106324600-106325400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:106325000-106327000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:106327000-106327200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:106328200-106328400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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