Variant report

Variant	esv3394968
Chromosome Location	chr4:20468789-20469912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565571974	chr4:20468819-20468820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1511828	chr4:20468820-20468821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114657983	chr4:20468852-20468853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186144687	chr4:20468904-20468905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117060180	chr4:20468927-20468928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16869626	chr4:20468966-20468967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574382995	chr4:20468992-20468993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535381474	chr4:20469059-20469060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553589868	chr4:20469076-20469077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578231991	chr4:20469091-20469092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370642827	chr4:20469113-20469114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190950883	chr4:20469166-20469167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72377064	chr4:20469212-20469213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180684476	chr4:20469254-20469255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542963086	chr4:20469287-20469288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200491781	chr4:20469334-20469335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376710086	chr4:20469343-20469344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186076913	chr4:20469345-20469346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573490842	chr4:20469356-20469357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368843250	chr4:20469457-20469458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372242074	chr4:20469487-20469488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540952986	chr4:20469518-20469519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552186329	chr4:20469526-20469527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12499199	chr4:20469565-20469566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs530276084	chr4:20469566-20469567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532927425	chr4:20469577-20469578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551296245	chr4:20469617-20469618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58299720	chr4:20469665-20469666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569789330	chr4:20469668-20469669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530565715	chr4:20469711-20469712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190945465	chr4:20469717-20469718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567306396	chr4:20469786-20469787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535315421	chr4:20469878-20469879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20449600-20486000	Weak transcription	Fetal Lung	lung
2	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:20465000-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20466600-20481800	Weak transcription	NHDF-Ad	bronchial
5	chr4:20466600-20484800	Weak transcription	Osteobl	bone
6	chr4:20466800-20489200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:20466800-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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