Variant report

Variant	esv2517956
Chromosome Location	chr4:95781271-95782651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 82 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35745670	chr4:95781298-95781299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375399753	chr4:95781327-95781328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542919408	chr4:95781365-95781366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74785308	chr4:95781371-95781372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184029701	chr4:95781450-95781451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2865410	chr4:95781474-95781475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144829672	chr4:95781543-95781544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564861456	chr4:95781577-95781578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527370907	chr4:95781578-95781579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547123123	chr4:95781586-95781587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28463939	chr4:95781628-95781629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188531910	chr4:95781661-95781662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536215592	chr4:95781690-95781691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17022370	chr4:95781698-95781699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569937913	chr4:95781713-95781714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139432128	chr4:95781748-95781749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17022374	chr4:95781749-95781750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369185163	chr4:95781767-95781768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193021449	chr4:95781785-95781786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534299359	chr4:95781814-95781815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558595200	chr4:95781819-95781820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73836142	chr4:95781850-95781851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542582115	chr4:95781903-95781904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149982716	chr4:95781963-95781964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575628192	chr4:95781965-95781966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184872342	chr4:95781977-95781978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145210598	chr4:95781979-95781980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565472495	chr4:95782007-95782008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539525723	chr4:95782009-95782010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73836143	chr4:95782067-95782068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527834684	chr4:95782078-95782079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576616349	chr4:95782125-95782126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369994965	chr4:95782129-95782130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560932385	chr4:95782162-95782163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529736937	chr4:95782235-95782236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146816412	chr4:95782245-95782246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570000938	chr4:95782266-95782267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538917924	chr4:95782267-95782268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80208824	chr4:95782317-95782318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72887841	chr4:95782323-95782324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534479457	chr4:95782331-95782332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140319702	chr4:95782338-95782339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56353739	chr4:95782440-95782441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188552217	chr4:95782480-95782481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74841145	chr4:95782481-95782482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191735755	chr4:95782510-95782511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545685854	chr4:95782524-95782525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558943091	chr4:95782572-95782573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572617011	chr4:95782605-95782606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143572035	chr4:95782642-95782643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95768800-95789600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:95769000-95789600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:95780400-95781800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:95781200-95791400	Weak transcription	A549	lung
5	chr4:95781200-95810600	Weak transcription	Fetal Kidney	kidney
6	chr4:95782400-95782600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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