Variant report

Variant	esv995052
Chromosome Location	chr5:106232927-106241625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540610222	chr5:106232930-106232931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560834875	chr5:106232935-106232936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143854063	chr5:106232939-106232940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545403719	chr5:106232962-106232963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529236679	chr5:106232992-106232993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58797261	chr5:106233001-106233002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547867160	chr5:106233028-106233029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370259184	chr5:106233032-106233033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527480701	chr5:106233033-106233034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564397145	chr5:106233063-106233064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146330399	chr5:106233067-106233068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370750482	chr5:106233192-106233193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201018822	chr5:106233194-106233195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71575428	chr5:106233195-106233196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557328082	chr5:106233196-106233197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202211506	chr5:106233208-106233209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs70996938	chr5:106233209-106233210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200390017	chr5:106233210-106233211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201853574	chr5:106233212-106233213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201407341	chr5:106233213-106233214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201295856	chr5:106233214-106233215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71586573	chr5:106233232-106233233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66946770	chr5:106233233-106233234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367765266	chr5:106233238-106233239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371015549	chr5:106233239-106233240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183041097	chr5:106233249-106233250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60098391	chr5:106233250-106233251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374600412	chr5:106233265-106233266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142965010	chr5:106233267-106233268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564807610	chr5:106233269-106233270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs70996939	chr5:106233277-106233278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188552467	chr5:106233286-106233287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35399767	chr5:106233305-106233306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538375157	chr5:106233310-106233311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1266133	chr5:106233343-106233344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35781242	chr5:106233345-106233346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114475608	chr5:106233348-106233349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534407394	chr5:106233412-106233413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528879977	chr5:106233429-106233430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554031949	chr5:106233432-106233433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577140655	chr5:106233442-106233443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78484543	chr5:106233450-106233451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193084662	chr5:106233474-106233475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142611498	chr5:106233504-106233505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575623810	chr5:106233535-106233536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541609631	chr5:106233537-106233538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2463036	chr5:106233542-106233543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2463037	chr5:106233551-106233552	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2454889	chr5:106233578-106233579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564095836	chr5:106233608-106233609	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106231400-106233400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:106233400-106234400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:106240000-106240800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:106240000-106241000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:106240200-106241000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:106240200-106241200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:106240200-106241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:106240400-106240800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:106240600-106240800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:106240600-106241200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:106241000-106241800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:106241000-106242200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:106241000-106242400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:106241000-106242600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:106241200-106241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:106241200-106242400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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