Variant report

Variant	esv3322258
Chromosome Location	chr5:107344553-107345601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565680402	chr5:107344553-107344554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564112253	chr5:107344592-107344593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534317828	chr5:107344617-107344618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56333026	chr5:107344618-107344619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577578866	chr5:107344651-107344652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537119273	chr5:107344658-107344659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs452130	chr5:107344722-107344723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556781820	chr5:107344749-107344750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376729327	chr5:107344754-107344755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542481155	chr5:107344767-107344768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550628506	chr5:107344798-107344799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562366015	chr5:107344879-107344880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536402727	chr5:107344895-107344896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373679985	chr5:107344896-107344897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572803534	chr5:107344908-107344909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541422274	chr5:107344909-107344910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564473382	chr5:107344911-107344912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533194794	chr5:107344912-107344913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56275001	chr5:107344916-107344917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56079280	chr5:107344920-107344921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57568786	chr5:107344922-107344923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55791421	chr5:107344924-107344925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61482875	chr5:107344926-107344927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57251414	chr5:107344928-107344929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371944064	chr5:107344933-107344934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10043814	chr5:107344934-107344935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34746145	chr5:107344960-107344961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2909884	chr5:107344961-107344962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375853217	chr5:107344962-107344963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376760665	chr5:107344963-107344964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369801845	chr5:107344967-107344968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55885013	chr5:107344971-107344972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58453805	chr5:107344975-107344976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373294040	chr5:107344979-107344980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377466475	chr5:107344983-107344984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368796222	chr5:107344987-107344988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55962601	chr5:107344991-107344992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373902630	chr5:107344995-107344996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542288966	chr5:107344996-107344997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs428999	chr5:107344997-107344998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376458454	chr5:107344999-107345000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10037379	chr5:107345003-107345004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369986632	chr5:107345004-107345005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371253334	chr5:107345007-107345008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370729623	chr5:107345009-107345010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374199025	chr5:107345011-107345012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377503152	chr5:107345015-107345016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370913542	chr5:107345017-107345018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374509718	chr5:107345019-107345020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550203612	chr5:107345021-107345022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107319800-107354000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107327400-107353400	Weak transcription	Aorta	Aorta
3	chr5:107339200-107352400	Weak transcription	Adipose Nuclei	Adipose
4	chr5:107339200-107357400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:107339200-107361200	Weak transcription	Fetal Heart	heart
6	chr5:107339200-107364200	Weak transcription	Left Ventricle	heart
7	chr5:107339600-107350800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:107339600-107364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:107339600-107373800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:107342600-107355600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:107344000-107364200	Weak transcription	Psoas Muscle	Psoas
12	chr5:107344400-107344600	Enhancers	Fetal Brain Male	brain
13	chr5:107344400-107363800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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