Variant report

Variant	esv3443311
Chromosome Location	chr5:100875153-100878151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 82 )

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	rs143496018	chr5:100875198-100875199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555090715	chr5:100875233-100875234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565696246	chr5:100875404-100875405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13436731	chr5:100875474-100875475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554339910	chr5:100875505-100875506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572591232	chr5:100875524-100875525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530928083	chr5:100875575-100875576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564390044	chr5:100875576-100875577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377040781	chr5:100875600-100875601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531902786	chr5:100875607-100875608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146654897	chr5:100875657-100875658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561976979	chr5:100875705-100875706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140247538	chr5:100875728-100875729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547625236	chr5:100875732-100875733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552605383	chr5:100875830-100875831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200794752	chr5:100875855-100875856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565859267	chr5:100875864-100875865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs239913	chr5:100875868-100875869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs377320788	chr5:100875895-100875896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144031774	chr5:100875962-100875963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557702220	chr5:100876004-100876005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192820328	chr5:100876081-100876082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184794974	chr5:100876089-100876090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374203532	chr5:100876210-100876211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555320200	chr5:100876272-100876273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57638775	chr5:100876282-100876283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534706131	chr5:100876301-100876302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552751467	chr5:100876311-100876312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs350508	chr5:100876334-100876335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546908394	chr5:100876379-100876380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545955633	chr5:100876390-100876391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557942161	chr5:100876435-100876436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568661655	chr5:100876466-100876467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202204782	chr5:100876468-100876469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188106033	chr5:100876601-100876602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535640925	chr5:100876621-100876622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543737234	chr5:100876731-100876732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557242302	chr5:100876740-100876741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575486517	chr5:100876745-100876746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534060319	chr5:100876831-100876832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368795872	chr5:100876842-100876843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150967455	chr5:100876862-100876863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73167869	chr5:100876914-100876915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533487096	chr5:100876925-100876926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551568731	chr5:100876931-100876932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574200054	chr5:100876943-100876944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191458686	chr5:100876978-100876979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184617152	chr5:100876989-100876990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35728487	chr5:100876997-100876998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189200590	chr5:100877005-100877006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100872000-100879000	Weak transcription	NHDF-Ad	bronchial

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