Variant report

Variant	esv3423061
Chromosome Location	chr5:59864495-59868793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375838518	chr5:59864513-59864514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566189444	chr5:59864545-59864546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535167989	chr5:59864546-59864547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548661806	chr5:59864558-59864559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568392660	chr5:59864563-59864564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537437276	chr5:59864568-59864569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs6896942	chr5:59864586-59864587	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs532686536	chr5:59864608-59864609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577094695	chr5:59864658-59864659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539649285	chr5:59864660-59864661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553190450	chr5:59864661-59864662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139183830	chr5:59864670-59864671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs373032604	chr5:59864684-59864685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186563668	chr5:59864755-59864756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551099239	chr5:59864756-59864757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569333536	chr5:59864762-59864763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs536853970	chr5:59864804-59864805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111341850	chr5:59864810-59864811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548774163	chr5:59864814-59864815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570420283	chr5:59864875-59864876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543375891	chr5:59864925-59864926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12653510	chr5:59864928-59864929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534363123	chr5:59864941-59864942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112175107	chr5:59864944-59864945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552492356	chr5:59864962-59864963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559636039	chr5:59864963-59864964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528276420	chr5:59865002-59865003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs548428974	chr5:59865003-59865004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568507129	chr5:59865036-59865037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373782984	chr5:59865047-59865048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147028785	chr5:59865056-59865057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550907337	chr5:59865089-59865090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192565404	chr5:59865134-59865135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183899542	chr5:59865138-59865139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567850310	chr5:59865146-59865147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138310948	chr5:59865176-59865177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs372626130	chr5:59865206-59865207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188392299	chr5:59865210-59865211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545170180	chr5:59865222-59865223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573135400	chr5:59865290-59865291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113278691	chr5:59865324-59865325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375278870	chr5:59865328-59865329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79239206	chr5:59865366-59865367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78304903	chr5:59865367-59865368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77928304	chr5:59865374-59865375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554387700	chr5:59865375-59865376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200703974	chr5:59865376-59865377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201534491	chr5:59865377-59865378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62372057	chr5:59865378-59865379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62372058	chr5:59865383-59865384	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59863600-59865200	ZNF genes & repeats	Dnd41	blood
2	chr5:59864400-59865000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:59864400-59865000	ZNF genes & repeats	Aorta	Aorta
4	chr5:59864600-59864800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:59864600-59865000	ZNF genes & repeats	Pancreas	Pancrea
6	chr5:59864800-59872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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