Variant report

Variant	esv3384409
Chromosome Location	chr4:45243495-45245493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185103476	chr4:45243496-45243497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114503871	chr4:45243512-45243513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536897678	chr4:45243524-45243525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147668973	chr4:45243557-45243558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555517526	chr4:45243565-45243566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190080371	chr4:45243566-45243567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541353075	chr4:45243567-45243568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150774906	chr4:45243582-45243583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372228638	chr4:45243612-45243613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570465278	chr4:45243646-45243647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28885749	chr4:45243648-45243649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563285059	chr4:45243674-45243675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139727146	chr4:45243700-45243701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375902837	chr4:45243704-45243705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145799591	chr4:45243712-45243713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373506981	chr4:45243722-45243723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555338377	chr4:45243725-45243726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542883837	chr4:45243754-45243755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561159617	chr4:45243771-45243772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149376460	chr4:45243781-45243782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1604150	chr4:45243787-45243788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571570185	chr4:45243805-45243806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148177995	chr4:45243843-45243844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372894423	chr4:45243848-45243849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534559414	chr4:45243870-45243871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377249011	chr4:45243880-45243881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181151393	chr4:45243892-45243893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28889292	chr4:45243912-45243913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369068360	chr4:45243921-45243922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28836524	chr4:45243922-45243923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536735325	chr4:45243971-45243972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536583699	chr4:45243988-45243989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147494259	chr4:45244005-45244006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554824202	chr4:45244032-45244033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548481039	chr4:45244049-45244050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28865595	chr4:45244053-45244054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139856996	chr4:45244064-45244065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577995311	chr4:45244083-45244084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538282476	chr4:45244133-45244134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145366332	chr4:45244134-45244135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566495990	chr4:45244160-45244161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575095021	chr4:45244199-45244200	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45237600-45243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:45243800-45244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:45243800-45244200	Enhancers	Adipose Nuclei	Adipose

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