Variant report

Variant	esv3404586
Chromosome Location	chr4:81823128-81824326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372189057	chr4:81823167-81823168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182116674	chr4:81823175-81823176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543710632	chr4:81823192-81823193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563687045	chr4:81823209-81823210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529554140	chr4:81823211-81823212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553113787	chr4:81823214-81823215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548109867	chr4:81823281-81823282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377035330	chr4:81823291-81823292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187036554	chr4:81823311-81823312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191517251	chr4:81823314-81823315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528215379	chr4:81823366-81823367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185453594	chr4:81823474-81823475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4992615	chr4:81823512-81823513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4992616	chr4:81823524-81823525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534024749	chr4:81823539-81823540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188369978	chr4:81823564-81823565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199556337	chr4:81823572-81823573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372460204	chr4:81823577-81823578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199802331	chr4:81823602-81823603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374147096	chr4:81823612-81823613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553159710	chr4:81823613-81823614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144776079	chr4:81823616-81823617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374886123	chr4:81823618-81823619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370560197	chr4:81823620-81823621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373730247	chr4:81823627-81823628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367721659	chr4:81823628-81823629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13116671	chr4:81823629-81823630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9714558	chr4:81823630-81823631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201644522	chr4:81823635-81823636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9714875	chr4:81823636-81823637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7440444	chr4:81823637-81823638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9714559	chr4:81823638-81823639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193279751	chr4:81823642-81823643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372112784	chr4:81823645-81823646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374653143	chr4:81823646-81823647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372604502	chr4:81823734-81823735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370673737	chr4:81823740-81823741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376871371	chr4:81823741-81823742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185486184	chr4:81823742-81823743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368258035	chr4:81823744-81823745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3038572	chr4:81823780-81823781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563329694	chr4:81823796-81823797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16998370	chr4:81823811-81823812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542926679	chr4:81823837-81823838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151052599	chr4:81823906-81823907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373429062	chr4:81823948-81823949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528634886	chr4:81823989-81823990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140026603	chr4:81824057-81824058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143558762	chr4:81824067-81824068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576794395	chr4:81824139-81824140	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
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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81822400-81823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:81823600-81825000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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