Variant report

Variant	esv3340331
Chromosome Location	chr5:104739453-104745151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:104722652..104724763-chr5:104741861..104743629,2	K562	blood:
2	chr5:104710520..104712024-chr5:104741469..104744150,2	K562	blood:
3	chr5:104740786..104743331-chr5:104745586..104748363,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552417677	chr5:104742401-104742402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139021941	chr5:104742409-104742410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537780184	chr5:104742421-104742422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574278434	chr5:104742422-104742423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567958072	chr5:104742439-104742440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141502575	chr5:104742447-104742448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553598248	chr5:104742455-104742456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576727907	chr5:104742479-104742480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182194858	chr5:104742516-104742517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545504441	chr5:104742545-104742546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556863157	chr5:104742550-104742551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576794317	chr5:104742613-104742614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150883308	chr5:104742618-104742619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7715902	chr5:104742680-104742681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7702850	chr5:104742710-104742711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541468225	chr5:104742711-104742712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112807129	chr5:104742772-104742773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186803187	chr5:104742806-104742807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571209007	chr5:104742871-104742872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549747106	chr5:104742885-104742886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569740588	chr5:104742886-104742887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531495902	chr5:104742895-104742896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548116044	chr5:104742913-104742914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111463759	chr5:104742926-104742927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191519457	chr5:104742938-104742939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74979617	chr5:104742963-104742964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538726637	chr5:104743017-104743018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139371516	chr5:104743018-104743019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558312187	chr5:104743029-104743030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571970293	chr5:104743086-104743087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371905818	chr5:104743092-104743093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545642085	chr5:104743107-104743108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539555969	chr5:104743169-104743170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560591034	chr5:104743173-104743174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77633836	chr5:104743175-104743176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184063964	chr5:104743230-104743231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117342482	chr5:104743258-104743259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571830007	chr5:104743268-104743269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147495281	chr5:104743288-104743289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144307035	chr5:104743327-104743328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543934903	chr5:104743333-104743334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574699892	chr5:104743356-104743357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189847494	chr5:104743371-104743372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543678312	chr5:104743385-104743386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564734608	chr5:104743452-104743453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578016037	chr5:104743473-104743474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112019065	chr5:104743589-104743590	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104742400-104743400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:104742400-104743600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:104742400-104743600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:104742600-104743400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:104742800-104743200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:104742800-104743400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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