Variant report

Variant	esv3392176
Chromosome Location	chr5:93864196-93866194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560058718	chr5:93864214-93864215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147556107	chr5:93864247-93864248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576765378	chr5:93864286-93864287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545353229	chr5:93864317-93864318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548573845	chr5:93864396-93864397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562133373	chr5:93864445-93864446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551789151	chr5:93864463-93864464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189046690	chr5:93864468-93864469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80140645	chr5:93864492-93864493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371001404	chr5:93864493-93864494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79731269	chr5:93864494-93864495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531449260	chr5:93864506-93864507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72771693	chr5:93864513-93864514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7702344	chr5:93864514-93864515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs182542386	chr5:93864551-93864552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553693103	chr5:93864560-93864561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561355705	chr5:93864568-93864569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187117541	chr5:93864599-93864600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567179946	chr5:93864665-93864666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551206627	chr5:93864676-93864677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535800902	chr5:93864702-93864703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530277786	chr5:93864703-93864704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142005557	chr5:93864805-93864806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544672761	chr5:93864806-93864807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558016211	chr5:93864864-93864865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577406778	chr5:93864900-93864901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150163815	chr5:93864906-93864907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138648018	chr5:93864929-93864930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190425321	chr5:93864945-93864946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61345271	chr5:93864949-93864950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372624630	chr5:93864951-93864952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546996477	chr5:93864963-93864964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536733688	chr5:93864973-93864974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60444380	chr5:93864980-93864981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556778211	chr5:93864983-93864984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375744083	chr5:93864994-93864995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532562242	chr5:93864997-93864998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567120426	chr5:93865000-93865001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60078669	chr5:93865008-93865009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148104229	chr5:93865014-93865015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531232743	chr5:93865023-93865024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59681054	chr5:93865025-93865026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181536447	chr5:93865031-93865032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199725421	chr5:93865036-93865037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185706698	chr5:93865042-93865043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536157593	chr5:93865050-93865051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58103553	chr5:93865058-93865059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533524441	chr5:93865061-93865062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547217949	chr5:93865063-93865064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377248538	chr5:93865068-93865069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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	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
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
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
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
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93849400-93872400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:93854800-93874800	Weak transcription	Liver	Liver
3	chr5:93855400-93886400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:93856200-93882600	Weak transcription	Ovary	ovary
5	chr5:93858400-93867800	Weak transcription	Fetal Lung	lung
6	chr5:93863000-93864200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:93864200-93864400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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