Variant report

Variant	esv3397371
Chromosome Location	chr5:120089103-120091301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539913992	chr5:120090200-120090201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373732921	chr5:120090202-120090203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188767009	chr5:120090213-120090214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11241564	chr5:120090249-120090250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544930476	chr5:120090253-120090254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200168116	chr5:120090273-120090274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367573104	chr5:120090274-120090275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs70985246	chr5:120090277-120090278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192944915	chr5:120090298-120090299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201338449	chr5:120090319-120090320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs70985247	chr5:120090323-120090324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370423975	chr5:120090332-120090333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372316711	chr5:120090390-120090391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184400571	chr5:120090395-120090396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79292494	chr5:120090448-120090449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28698476	chr5:120090449-120090450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543155155	chr5:120090486-120090487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187204302	chr5:120090487-120090488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115338024	chr5:120090521-120090522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547271144	chr5:120090532-120090533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146365412	chr5:120090546-120090547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530260501	chr5:120090563-120090564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532918480	chr5:120090567-120090568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551071632	chr5:120090571-120090572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200534223	chr5:120090606-120090607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113466335	chr5:120090607-120090608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191616351	chr5:120090669-120090670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112442517	chr5:120090692-120090693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555478714	chr5:120090693-120090694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114367818	chr5:120090711-120090712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115452565	chr5:120090713-120090714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552820121	chr5:120090750-120090751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577500808	chr5:120090773-120090774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544930837	chr5:120090807-120090808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557075770	chr5:120090808-120090809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183956011	chr5:120090813-120090814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189126883	chr5:120090815-120090816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371201096	chr5:120090835-120090836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6879487	chr5:120090841-120090842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540847197	chr5:120090845-120090846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565510048	chr5:120090872-120090873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532831167	chr5:120090876-120090877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6879947	chr5:120090877-120090878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200189013	chr5:120090881-120090882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200796846	chr5:120090883-120090884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569539881	chr5:120090885-120090886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182518583	chr5:120090898-120090899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573578076	chr5:120090899-120090900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548755372	chr5:120090921-120090922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567042997	chr5:120090948-120090949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120090200-120091800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:120090200-120099000	Weak transcription	H9 Cell Line	embryonic stem cell

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