Variant report

Variant	esv3324453
Chromosome Location	chr4:131986402-131990200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572630936	chr4:131986439-131986440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541347218	chr4:131986519-131986520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564840418	chr4:131986526-131986527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371979203	chr4:131986568-131986569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531977682	chr4:131986615-131986616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545401454	chr4:131986664-131986665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539522746	chr4:131986670-131986671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531322615	chr4:131986696-131986697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548339242	chr4:131986706-131986707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71614851	chr4:131986749-131986750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1390150	chr4:131986752-131986753	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527519494	chr4:131986768-131986769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572814650	chr4:131986792-131986793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139917585	chr4:131986811-131986812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142242295	chr4:131986812-131986813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539802540	chr4:131986829-131986830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189827965	chr4:131986855-131986856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369619820	chr4:131986856-131986857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570136728	chr4:131986860-131986861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535554606	chr4:131986863-131986864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555866109	chr4:131986874-131986875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs388751	chr4:131986879-131986880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545751630	chr4:131987028-131987029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111908874	chr4:131987030-131987031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11733380	chr4:131987033-131987034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577928816	chr4:131987085-131987086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369030474	chr4:131987101-131987102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs391025	chr4:131987152-131987153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531235785	chr4:131987191-131987192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541548774	chr4:131987216-131987217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561866030	chr4:131987229-131987230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151211597	chr4:131987252-131987253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563924280	chr4:131987257-131987258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547576230	chr4:131987273-131987274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570724713	chr4:131987325-131987326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533287189	chr4:131987369-131987370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182199589	chr4:131987376-131987377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185631698	chr4:131987386-131987387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140938635	chr4:131987434-131987435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190142850	chr4:131987479-131987480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113354668	chr4:131987530-131987531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528790953	chr4:131987535-131987536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182795097	chr4:131987537-131987538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557947991	chr4:131987564-131987565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559554451	chr4:131987570-131987571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188758218	chr4:131987574-131987575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537327898	chr4:131987636-131987637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145771099	chr4:131987667-131987668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575941604	chr4:131987687-131987688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141685884	chr4:131987705-131987706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131985000-131986800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:131985800-131987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:131986600-131986800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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