Variant report

Variant	esv1794180
Chromosome Location	chr5:59446971-59455212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558973484	chr5:59446980-59446981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138841486	chr5:59447067-59447068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56752765	chr5:59447107-59447108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs60148515	chr5:59447126-59447127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144677862	chr5:59447180-59447181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148094771	chr5:59447270-59447271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114273789	chr5:59447381-59447382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543864049	chr5:59447383-59447384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112588158	chr5:59447616-59447617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs139793205	chr5:59447626-59447627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567839470	chr5:59447680-59447681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562383806	chr5:59447688-59447689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs182926217	chr5:59447718-59447719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551175461	chr5:59447750-59447751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187087187	chr5:59447751-59447752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145190448	chr5:59447769-59447770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551993298	chr5:59447807-59447808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565620967	chr5:59447819-59447820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369784708	chr5:59447873-59447874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534336850	chr5:59447893-59447894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560573327	chr5:59447911-59447912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs115501093	chr5:59447932-59447933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147194363	chr5:59447945-59447946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371880952	chr5:59447971-59447972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561833267	chr5:59447996-59447997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541518956	chr5:59448037-59448038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139509653	chr5:59448090-59448091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149704676	chr5:59448098-59448099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192403319	chr5:59448115-59448116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115774847	chr5:59448137-59448138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183350994	chr5:59448161-59448162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111410858	chr5:59448251-59448252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542229684	chr5:59448252-59448253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187645018	chr5:59448282-59448283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531230707	chr5:59448297-59448298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568537666	chr5:59448303-59448304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190229669	chr5:59448352-59448353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564664985	chr5:59448353-59448354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182500208	chr5:59448404-59448405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2962963	chr5:59448429-59448430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565652042	chr5:59448436-59448437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528205153	chr5:59448454-59448455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547760851	chr5:59448455-59448456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55875506	chr5:59448480-59448481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35561110	chr5:59448495-59448496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527737121	chr5:59448545-59448546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567763320	chr5:59448617-59448618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4699951	chr5:59448629-59448630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556984285	chr5:59448641-59448642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570598040	chr5:59448681-59448682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59427400-59447400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59447600-59448000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr5:59448000-59449000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:59448800-59451200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:59449000-59449800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:59449800-59462400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:59451000-59451200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:59451800-59452000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:59455000-59459000	Weak transcription	Primary monocytes fromperipheralblood	blood

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