Variant report

Variant	esv3433363
Chromosome Location	chr4:55069440-55072092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577683063	chr4:55069481-55069482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145127696	chr4:55069539-55069540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115665153	chr4:55069546-55069547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184007502	chr4:55069574-55069575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542992332	chr4:55069598-55069599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188981935	chr4:55069599-55069600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559859115	chr4:55069626-55069627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528664725	chr4:55069628-55069629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551434341	chr4:55069669-55069670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377042224	chr4:55069680-55069681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565057057	chr4:55069681-55069682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191835230	chr4:55069684-55069685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556987127	chr4:55069705-55069706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530269106	chr4:55069706-55069707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535653734	chr4:55069725-55069726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550932205	chr4:55069734-55069735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567602400	chr4:55069738-55069739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575342514	chr4:55069760-55069761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535728769	chr4:55069792-55069793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4864842	chr4:55069817-55069818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565818835	chr4:55069858-55069859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551854245	chr4:55069881-55069882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182931409	chr4:55069918-55069919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374453386	chr4:55070007-55070008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571349878	chr4:55070091-55070092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537169535	chr4:55070106-55070107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28451895	chr4:55070122-55070123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573567574	chr4:55070182-55070183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540953508	chr4:55070193-55070194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543258528	chr4:55070201-55070202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186462352	chr4:55070207-55070208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564720390	chr4:55070212-55070213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111539123	chr4:55070257-55070258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553412494	chr4:55070274-55070275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34257926	chr4:55070275-55070276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548115599	chr4:55070289-55070290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183983414	chr4:55070301-55070302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532194230	chr4:55070308-55070309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573068791	chr4:55070329-55070330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559739268	chr4:55070339-55070340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187480943	chr4:55070340-55070341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12499153	chr4:55070350-55070351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372498724	chr4:55070374-55070375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35659595	chr4:55070391-55070392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530911637	chr4:55070397-55070398	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55064800-55069600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:55069600-55070400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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