Variant report

Variant	esv3398142
Chromosome Location	chr5:104902102-104924309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573216133	chr5:104917602-104917603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559387227	chr5:104917607-104917608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372513416	chr5:104917659-104917660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188856848	chr5:104917664-104917665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551404313	chr5:104917674-104917675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73202906	chr5:104917704-104917705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181444339	chr5:104917733-104917734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550858958	chr5:104917758-104917759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1593033	chr5:104917781-104917782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377239784	chr5:104917792-104917793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553476151	chr5:104917856-104917857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369969546	chr5:104917897-104917898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572387243	chr5:104917936-104917937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1593032	chr5:104917961-104917962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113503867	chr5:104917966-104917967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113209934	chr5:104917981-104917982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34725744	chr5:104917983-104917984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397821096	chr5:104917984-104917985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544316154	chr5:104917989-104917990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141342278	chr5:104917994-104917995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185236485	chr5:104918052-104918053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542349552	chr5:104918059-104918060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144958530	chr5:104918070-104918071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562697071	chr5:104918106-104918107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142408596	chr5:104918119-104918120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72787941	chr5:104918146-104918147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544990747	chr5:104918150-104918151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564887419	chr5:104918164-104918165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531093831	chr5:104918176-104918177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377288890	chr5:104918203-104918204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370726187	chr5:104918259-104918260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530275997	chr5:104918261-104918262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190529863	chr5:104918269-104918270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79018744	chr5:104918359-104918360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200729664	chr5:104918369-104918370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369790629	chr5:104923808-104923809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375272929	chr5:104923825-104923826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577812015	chr5:104923850-104923851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543262051	chr5:104923877-104923878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1559262	chr5:104923878-104923879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs139510656	chr5:104923880-104923881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542612232	chr5:104923904-104923905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559423964	chr5:104923921-104923922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192783902	chr5:104924012-104924013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184711411	chr5:104924017-104924018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552098556	chr5:104924107-104924108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565326998	chr5:104924125-104924126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188460939	chr5:104924132-104924133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574700679	chr5:104924177-104924178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201412842	chr5:104924188-104924189	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104917600-104918000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:104918000-104918400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:104918000-104918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:104923800-104924200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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