Variant report

Variant	esv3322706
Chromosome Location	chr4:92145929-92147227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114403846	chr4:92145941-92145942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569234064	chr4:92145958-92145959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369192790	chr4:92145972-92145973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546048358	chr4:92146014-92146015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191943626	chr4:92146057-92146058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528599617	chr4:92146109-92146110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569189748	chr4:92146124-92146125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548363162	chr4:92146131-92146132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141102539	chr4:92146261-92146262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369849812	chr4:92146315-92146316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202096684	chr4:92146325-92146326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66871278	chr4:92146326-92146327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144985167	chr4:92146331-92146332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397994488	chr4:92146332-92146333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13136357	chr4:92146333-92146334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375568248	chr4:92146335-92146336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60150057	chr4:92146349-92146350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13135824	chr4:92146350-92146351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13111568	chr4:92146351-92146352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200552268	chr4:92146363-92146364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531751197	chr4:92146376-92146377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376159070	chr4:92146452-92146453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368993358	chr4:92146455-92146456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539722426	chr4:92146472-92146473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13136811	chr4:92146503-92146504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs70965477	chr4:92146504-92146505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372648980	chr4:92146505-92146506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189428445	chr4:92146515-92146516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534739489	chr4:92146527-92146528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545516289	chr4:92146532-92146533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373921334	chr4:92146538-92146539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377360566	chr4:92146548-92146549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193176312	chr4:92146556-92146557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576281233	chr4:92146557-92146558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558267327	chr4:92146598-92146599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574465029	chr4:92146665-92146666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528293315	chr4:92146666-92146667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556974907	chr4:92146667-92146668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184982388	chr4:92146687-92146688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72875139	chr4:92146695-92146696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576727838	chr4:92146764-92146765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534432232	chr4:92146786-92146787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181836086	chr4:92146808-92146809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74804852	chr4:92146817-92146818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542320679	chr4:92146819-92146820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185249090	chr4:92146843-92146844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546736870	chr4:92146911-92146912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28684523	chr4:92146932-92146933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564124838	chr4:92146935-92146936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533461585	chr4:92146958-92146959	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92145800-92146800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:92146800-92147000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:92147000-92147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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