Variant report

Variant	esv3361192
Chromosome Location	chr4:45084732-45085183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58201550	chr4:45084742-45084743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200749239	chr4:45084743-45084744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200191543	chr4:45084745-45084746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11730691	chr4:45084761-45084762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555627565	chr4:45084772-45084773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531289496	chr4:45084792-45084793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539249664	chr4:45084813-45084814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549814729	chr4:45084822-45084823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527599989	chr4:45084850-45084851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6817044	chr4:45084874-45084875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6815681	chr4:45084928-45084929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181820436	chr4:45084961-45084962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6817286	chr4:45084967-45084968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539648841	chr4:45084968-45084969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6447423	chr4:45084982-45084983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186507342	chr4:45085020-45085021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6815872	chr4:45085021-45085022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532478796	chr4:45085041-45085042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182918864	chr4:45085048-45085049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372915878	chr4:45085052-45085053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60898313	chr4:45085078-45085079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191644028	chr4:45085111-45085112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372780318	chr4:45085129-45085130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75670286	chr4:45085131-45085132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555372525	chr4:45085150-45085151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183478893	chr4:45085152-45085153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114651112	chr4:45085165-45085166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45082600-45085000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:45082800-45085600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:45084600-45085800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:45085000-45086200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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