Variant report

Variant	esv3395246
Chromosome Location	chr4:90017079-90019427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13138946	chr4:90017218-90017219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546853006	chr4:90017254-90017255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568766882	chr4:90017286-90017287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375666639	chr4:90017289-90017290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529548159	chr4:90017315-90017316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201570710	chr4:90017325-90017326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113358846	chr4:90017352-90017353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551035804	chr4:90017362-90017363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569272687	chr4:90017365-90017366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111596852	chr4:90017374-90017375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539798828	chr4:90017414-90017415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55987745	chr4:90017442-90017443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs28669835	chr4:90017479-90017480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534019822	chr4:90017481-90017482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555255976	chr4:90017486-90017487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571839869	chr4:90017487-90017488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573919219	chr4:90017498-90017499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183245440	chr4:90017504-90017505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35130975	chr4:90017544-90017545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4693985	chr4:90017555-90017556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187906552	chr4:90017610-90017611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559839395	chr4:90017627-90017628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190665847	chr4:90017679-90017680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182906574	chr4:90017696-90017697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13144759	chr4:90017784-90017785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187897377	chr4:90017894-90017895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139302948	chr4:90017902-90017903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71594874	chr4:90017915-90017916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10525631	chr4:90017918-90017919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs70959654	chr4:90017935-90017936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35840980	chr4:90017936-90017937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35979637	chr4:90017939-90017940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62306361	chr4:90017940-90017941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71594875	chr4:90017942-90017943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62306362	chr4:90017947-90017948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71598429	chr4:90017957-90017958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61694773	chr4:90017962-90017963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60934885	chr4:90017963-90017964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59768375	chr4:90017977-90017978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551300067	chr4:90017979-90017980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59178376	chr4:90017981-90017982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13145376	chr4:90017985-90017986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57656427	chr4:90017995-90017996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576666059	chr4:90017999-90018000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57969793	chr4:90018009-90018010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58296609	chr4:90018014-90018015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368405146	chr4:90018015-90018016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13145373	chr4:90018020-90018021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533385303	chr4:90018027-90018028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557721315	chr4:90018029-90018030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90017200-90031600	Weak transcription	Right Atrium	heart

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