Variant report

Variant	esv3378142
Chromosome Location	chr5:107354953-107358201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555418100	chr5:107354965-107354966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543091303	chr5:107355050-107355051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189561402	chr5:107355097-107355098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534393875	chr5:107355099-107355100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146193338	chr5:107355166-107355167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111417564	chr5:107355197-107355198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556695992	chr5:107355212-107355213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576832034	chr5:107355261-107355262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577514329	chr5:107355262-107355263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111571299	chr5:107355348-107355349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181254375	chr5:107355351-107355352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148152832	chr5:107355353-107355354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185364168	chr5:107355366-107355367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147557393	chr5:107355367-107355368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75213704	chr5:107355368-107355369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541907776	chr5:107355385-107355386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558929279	chr5:107355389-107355390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562204490	chr5:107355394-107355395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565788014	chr5:107355399-107355400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75010842	chr5:107355411-107355412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563910016	chr5:107355419-107355420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559985218	chr5:107355490-107355491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532975557	chr5:107355565-107355566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139083075	chr5:107355575-107355576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528734896	chr5:107355594-107355595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150073330	chr5:107355600-107355601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528875842	chr5:107355606-107355607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560484639	chr5:107355631-107355632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61598228	chr5:107355632-107355633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397964941	chr5:107355641-107355642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201660915	chr5:107355649-107355650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183813339	chr5:107355716-107355717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565678746	chr5:107355736-107355737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74871571	chr5:107355785-107355786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557852043	chr5:107355828-107355829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542520199	chr5:107355849-107355850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188356554	chr5:107355880-107355881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144364335	chr5:107355904-107355905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192295758	chr5:107355913-107355914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562379100	chr5:107355942-107355943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75587434	chr5:107356009-107356010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142385343	chr5:107356012-107356013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555429498	chr5:107356021-107356022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183666853	chr5:107356033-107356034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541131840	chr5:107356062-107356063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530384638	chr5:107356073-107356074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147909106	chr5:107356161-107356162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373805631	chr5:107356179-107356180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577394962	chr5:107356199-107356200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141674055	chr5:107356288-107356289	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107339200-107357400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:107339200-107361200	Weak transcription	Fetal Heart	heart
3	chr5:107339200-107364200	Weak transcription	Left Ventricle	heart
4	chr5:107339600-107364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:107339600-107373800	Weak transcription	Primary T cells from cord blood	blood
6	chr5:107342600-107355600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:107344000-107364200	Weak transcription	Psoas Muscle	Psoas
8	chr5:107344400-107363800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:107350800-107356200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:107351400-107355600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:107352800-107358200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:107352800-107364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:107353200-107357200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:107353400-107357600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:107354000-107355000	Strong transcription	Primary B cells from cord blood	blood
16	chr5:107354200-107357200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:107354600-107355400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:107355000-107360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:107355000-107361000	Weak transcription	Primary B cells from cord blood	blood
20	chr5:107355400-107358200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:107357600-107359000	Enhancers	Pancreatic Islets	Pancreatic Islet

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