Variant report

Variant	esv3465691
Chromosome Location	chr4:91381131-91381570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62312946	chr4:91381158-91381159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190015054	chr4:91381196-91381197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562633334	chr4:91381203-91381204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113565540	chr4:91381244-91381245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545152827	chr4:91381250-91381251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186570497	chr4:91381252-91381253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527953474	chr4:91381253-91381254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547755620	chr4:91381273-91381274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566489289	chr4:91381293-91381294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368677837	chr4:91381305-91381306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146681357	chr4:91381320-91381321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112833932	chr4:91381333-91381334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371070164	chr4:91381339-91381340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373833708	chr4:91381386-91381387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367641507	chr4:91381392-91381393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570512750	chr4:91381401-91381402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533064602	chr4:91381416-91381417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527668941	chr4:91381454-91381455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542799948	chr4:91381455-91381456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369825323	chr4:91381476-91381477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397973583	chr4:91381496-91381497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58196440	chr4:91381497-91381498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368647638	chr4:91381506-91381507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553779503	chr4:91381532-91381533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191019635	chr4:91381534-91381535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28416577	chr4:91381541-91381542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Multiple myeloma	17550852	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91378800-91396800	Weak transcription	Gastric	stomach
2	chr4:91379600-91395400	Weak transcription	Fetal Intestine Small	intestine

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