Variant report

Variant	esv3450485
Chromosome Location	chr5:91279846-91283244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114293419	chr5:91279854-91279855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114421897	chr5:91279909-91279910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544998490	chr5:91279934-91279935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147990746	chr5:91279983-91279984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141619463	chr5:91280032-91280033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529704097	chr5:91280042-91280043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76963639	chr5:91280109-91280110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560063229	chr5:91280113-91280114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528990791	chr5:91280183-91280184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181199214	chr5:91280204-91280205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372981956	chr5:91280219-91280220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529837604	chr5:91280241-91280242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185802262	chr5:91280246-91280247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531372212	chr5:91280257-91280258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375950500	chr5:91280286-91280287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372774912	chr5:91280316-91280317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551379761	chr5:91280371-91280372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140416103	chr5:91280404-91280405	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534466893	chr5:91280532-91280533	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546207382	chr5:91280580-91280581	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111386566	chr5:91280594-91280595	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566320811	chr5:91280603-91280604	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536755735	chr5:91280691-91280692	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560147855	chr5:91280739-91280740	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs78535884	chr5:91280744-91280745	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs552177442	chr5:91280753-91280754	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs369537204	chr5:91280764-91280765	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62368423	chr5:91280843-91280844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562217028	chr5:91280873-91280874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537646783	chr5:91280959-91280960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540105288	chr5:91281015-91281016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34096083	chr5:91281016-91281017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573799247	chr5:91281017-91281018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191012512	chr5:91281070-91281071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536716486	chr5:91281114-91281115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147405169	chr5:91281125-91281126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56217007	chr5:91281170-91281171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551418428	chr5:91281183-91281184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573141007	chr5:91281184-91281185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73771619	chr5:91281195-91281196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182724848	chr5:91281200-91281201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117245501	chr5:91281209-91281210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549978916	chr5:91281280-91281281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186120804	chr5:91281316-91281317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545726455	chr5:91281351-91281352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139659309	chr5:91281366-91281367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569846035	chr5:91281384-91281385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538722996	chr5:91281421-91281422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55921220	chr5:91281423-91281424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191796836	chr5:91281432-91281433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91274800-91280000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:91276600-91280000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:91276600-91280000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:91276800-91280200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:91279800-91280600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:91279800-91280600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:91279800-91280600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:91280000-91280400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:91280000-91280600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:91280000-91281200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:91280000-91281600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:91280200-91280400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:91280400-91280600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:91280400-91280800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr5:91280600-91280800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:91280600-91281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:91280600-91281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:91280600-91281800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:91280800-91281200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:91280800-91281800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:91281000-91281400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:91281600-91281800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:91281600-91282000	Enhancers	Fetal Lung	lung
24	chr5:91281800-91282000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:91282000-91282200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:91282000-91282400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:91282400-91282800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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