Variant report

Variant	esv3434803
Chromosome Location	chr4:133070396-133099010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs573231343	chr4:133077619-133077620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545403076	chr4:133077673-133077674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565096428	chr4:133077686-133077687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181934139	chr4:133077750-133077751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56992816	chr4:133077811-133077812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561235774	chr4:133077833-133077834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530263219	chr4:133077881-133077882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186245489	chr4:133077886-133077887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564134762	chr4:133077924-133077925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372716779	chr4:133077953-133077954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139664789	chr4:133077969-133077970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577951185	chr4:133078051-133078052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528141228	chr4:133078071-133078072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551360278	chr4:133078092-133078093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571202822	chr4:133078099-133078100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540527808	chr4:133078143-133078144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61621025	chr4:133078148-133078149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191356946	chr4:133078152-133078153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567547609	chr4:133078167-133078168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2418554	chr4:133078218-133078219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181366279	chr4:133078219-133078220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573299476	chr4:133078250-133078251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185299061	chr4:133078283-133078284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538707938	chr4:133078315-133078316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190006668	chr4:133078321-133078322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554010437	chr4:133078339-133078340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547824911	chr4:133078360-133078361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544182904	chr4:133078434-133078435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562578340	chr4:133078436-133078437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183231433	chr4:133078452-133078453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187896340	chr4:133078473-133078474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151105699	chr4:133078474-133078475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191462513	chr4:133078476-133078477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1605074	chr4:133078493-133078494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72919425	chr4:133078535-133078536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78696158	chr4:133078553-133078554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576519993	chr4:133078562-133078563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550568396	chr4:133078564-133078565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149666534	chr4:133078579-133078580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183727334	chr4:133078615-133078616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79635564	chr4:133078620-133078621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570949767	chr4:133078621-133078622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538814909	chr4:133078631-133078632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533395674	chr4:133078635-133078636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188522330	chr4:133078636-133078637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575311753	chr4:133078697-133078698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192873231	chr4:133078706-133078707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545335475	chr4:133078716-133078717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35275068	chr4:133078794-133078795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566858493	chr4:133078798-133078799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133077600-133080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:133080600-133080800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:133083600-133084400	Enhancers	HUVEC	blood vessel
4	chr4:133091000-133091200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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