Variant report

Variant	esv3491872
Chromosome Location	chr4:132490051-132494156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183621996	chr4:132490065-132490066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79159732	chr4:132490127-132490128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560412775	chr4:132490133-132490134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540817221	chr4:132490141-132490142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554192364	chr4:132490155-132490156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572597533	chr4:132490157-132490158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560956900	chr4:132490159-132490160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76056841	chr4:132490192-132490193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570878039	chr4:132490199-132490200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537169024	chr4:132490204-132490205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543445087	chr4:132490239-132490240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188308742	chr4:132490246-132490247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567460912	chr4:132490294-132490295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114029594	chr4:132490315-132490316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74840431	chr4:132490325-132490326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191612802	chr4:132490329-132490330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146210326	chr4:132490356-132490357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184886200	chr4:132490372-132490373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575663545	chr4:132490375-132490376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190779716	chr4:132490482-132490483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181654807	chr4:132490485-132490486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532338657	chr4:132490521-132490522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185374229	chr4:132490542-132490543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540451343	chr4:132490543-132490544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377189986	chr4:132490585-132490586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532683715	chr4:132490675-132490676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139352646	chr4:132490679-132490680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564540812	chr4:132490758-132490759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530383359	chr4:132490759-132490760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550688360	chr4:132490811-132490812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189434694	chr4:132490828-132490829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529928227	chr4:132490838-132490839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181212140	chr4:132490853-132490854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148705288	chr4:132490910-132490911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71593034	chr4:132490912-132490913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75497902	chr4:132490913-132490914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560185575	chr4:132490933-132490934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369515956	chr4:132490935-132490936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533677919	chr4:132490979-132490980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558305917	chr4:132490980-132490981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185656422	chr4:132490983-132490984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145101961	chr4:132491089-132491090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569275738	chr4:132491091-132491092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149102103	chr4:132491094-132491095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555076659	chr4:132491096-132491097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574824800	chr4:132491103-132491104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540296328	chr4:132491118-132491119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553969821	chr4:132491123-132491124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75010947	chr4:132491126-132491127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142818368	chr4:132491134-132491135	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
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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