Variant report

Variant	esv3424292
Chromosome Location	chr4:92458823-92484005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540369502	chr4:92459624-92459625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560192235	chr4:92459701-92459702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573610053	chr4:92459802-92459803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370552787	chr4:92459820-92459821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374168007	chr4:92459830-92459831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7664365	chr4:92459833-92459834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562310608	chr4:92459834-92459835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200730377	chr4:92459844-92459845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202144202	chr4:92459846-92459847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202042549	chr4:92459849-92459850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371252109	chr4:92459854-92459855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56194247	chr4:92459855-92459856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376318252	chr4:92459862-92459863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563291138	chr4:92459921-92459922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150449066	chr4:92460008-92460009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190943452	chr4:92460028-92460029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182888283	chr4:92460124-92460125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28368732	chr4:92460125-92460126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547141116	chr4:92460156-92460157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111636678	chr4:92460157-92460158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114231349	chr4:92460172-92460173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536311041	chr4:92460181-92460182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184323811	chr4:92480029-92480030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563685754	chr4:92480030-92480031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551492403	chr4:92480083-92480084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564886670	chr4:92480107-92480108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188680959	chr4:92480130-92480131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs955009	chr4:92480215-92480216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs955008	chr4:92480242-92480243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs955010	chr4:92480270-92480271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181157271	chr4:92480275-92480276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574671385	chr4:92480387-92480388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538014233	chr4:92480388-92480389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6820623	chr4:92480434-92480435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549839952	chr4:92480474-92480475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569606717	chr4:92480495-92480496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1400352	chr4:92480496-92480497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552264556	chr4:92480497-92480498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565787142	chr4:92480607-92480608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534757280	chr4:92480611-92480612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1400351	chr4:92480612-92480613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186145008	chr4:92480665-92480666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75842020	chr4:92480668-92480669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556437801	chr4:92480690-92480691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577134556	chr4:92480701-92480702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546329588	chr4:92480718-92480719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564463904	chr4:92480775-92480776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73838045	chr4:92480817-92480818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553184281	chr4:92480830-92480831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140159481	chr4:92480832-92480833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92459600-92460200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:92480000-92487000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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