Variant report

Variant	esv3467527
Chromosome Location	chr4:187971173-187972773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538658354	chr4:187971466-187971467	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188523787	chr4:187971467-187971468	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141442500	chr4:187971483-187971484	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12644996	chr4:187971503-187971504	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4573171	chr4:187971507-187971508	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7791791	chr4:187971535-187971536	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555182869	chr4:187971540-187971541	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376481791	chr4:187971550-187971551	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370932216	chr4:187971580-187971581	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575104502	chr4:187971588-187971589	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551206323	chr4:187971632-187971633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368325670	chr4:187971663-187971664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143751680	chr4:187971693-187971694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554512269	chr4:187971710-187971711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577601197	chr4:187971716-187971717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545860419	chr4:187971717-187971718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562322751	chr4:187971721-187971722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28524953	chr4:187971754-187971755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541575321	chr4:187971755-187971756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112051427	chr4:187971759-187971760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149664180	chr4:187971760-187971761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547150960	chr4:187971762-187971763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527486443	chr4:187971770-187971771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193107872	chr4:187971795-187971796	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187971400-187971600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:187971400-187971600	Enhancers	HSMM	muscle
3	chr4:187971400-187971800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:187971400-187971800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:187971400-187971800	Enhancers	HUVEC	blood vessel
6	chr4:187971400-187971800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:187971400-187971800	Enhancers	NHDF-Ad	bronchial

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