Variant report

Variant	esv3354282
Chromosome Location	chr4:92884829-92885977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570968980	chr4:92884859-92884860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578134106	chr4:92884908-92884909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370827527	chr4:92884948-92884949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546052268	chr4:92884984-92884985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184183020	chr4:92885014-92885015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114600322	chr4:92885063-92885064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371419329	chr4:92885094-92885095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201481165	chr4:92885118-92885119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35034849	chr4:92885125-92885126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561728551	chr4:92885133-92885134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543124383	chr4:92885151-92885152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35107867	chr4:92885152-92885153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374354636	chr4:92885160-92885161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13101686	chr4:92885172-92885173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13126009	chr4:92885173-92885174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527649164	chr4:92885181-92885182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375880303	chr4:92885188-92885189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199743950	chr4:92885191-92885192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11943150	chr4:92885197-92885198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373587233	chr4:92885198-92885199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372623117	chr4:92885199-92885200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367843327	chr4:92885202-92885203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376160327	chr4:92885212-92885213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13126155	chr4:92885213-92885214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12509493	chr4:92885236-92885237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12505831	chr4:92885237-92885238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368190384	chr4:92885238-92885239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11943157	chr4:92885245-92885246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12509494	chr4:92885246-92885247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12505833	chr4:92885247-92885248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74194341	chr4:92885255-92885256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35596362	chr4:92885266-92885267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs70940854	chr4:92885271-92885272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372262697	chr4:92885275-92885276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375626307	chr4:92885279-92885280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372142966	chr4:92885286-92885287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368296999	chr4:92885293-92885294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12500895	chr4:92885302-92885303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12504512	chr4:92885303-92885304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372345616	chr4:92885312-92885313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377105414	chr4:92885313-92885314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373083719	chr4:92885315-92885316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs70940856	chr4:92885320-92885321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114248301	chr4:92885352-92885353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551646911	chr4:92885407-92885408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564054408	chr4:92885445-92885446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76847681	chr4:92885452-92885453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74896295	chr4:92885484-92885485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62311144	chr4:92885510-92885511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113214630	chr4:92885514-92885515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92884200-92885000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:92884600-92885000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:92884600-92885000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:92884800-92886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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