Variant report

Variant	esv3425428
Chromosome Location	chr5:59865195-59867893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372626130	chr5:59865206-59865207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188392299	chr5:59865210-59865211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545170180	chr5:59865222-59865223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573135400	chr5:59865290-59865291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113278691	chr5:59865324-59865325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375278870	chr5:59865328-59865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79239206	chr5:59865366-59865367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78304903	chr5:59865367-59865368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77928304	chr5:59865374-59865375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554387700	chr5:59865375-59865376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200703974	chr5:59865376-59865377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201534491	chr5:59865377-59865378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62372057	chr5:59865378-59865379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62372058	chr5:59865383-59865384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141165126	chr5:59865386-59865387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373410377	chr5:59865387-59865388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574425610	chr5:59865388-59865389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60637303	chr5:59865395-59865396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369685769	chr5:59865396-59865397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543057736	chr5:59865404-59865405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193194091	chr5:59865409-59865410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576905912	chr5:59865419-59865420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372436838	chr5:59865445-59865446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185102243	chr5:59865463-59865464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559672436	chr5:59865467-59865468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528311066	chr5:59865520-59865521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11959653	chr5:59865524-59865525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562046205	chr5:59865530-59865531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189957599	chr5:59865537-59865538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375540165	chr5:59865563-59865564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576763323	chr5:59865578-59865579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533140156	chr5:59865585-59865586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201417602	chr5:59865601-59865602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537406000	chr5:59865624-59865625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139144414	chr5:59865642-59865643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113148543	chr5:59865709-59865710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368748059	chr5:59865710-59865711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372772162	chr5:59865719-59865720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58515103	chr5:59865755-59865756	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs555886752	chr5:59865802-59865803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569343869	chr5:59865826-59865827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537199257	chr5:59865827-59865828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369170027	chr5:59865874-59865875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557073414	chr5:59865883-59865884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576950720	chr5:59865917-59865918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545781276	chr5:59865946-59865947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553326470	chr5:59865985-59865986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191680496	chr5:59865994-59865995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541669333	chr5:59866037-59866038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561963146	chr5:59866063-59866064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59863600-59865200	ZNF genes & repeats	Dnd41	blood
2	chr5:59864800-59872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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