Variant report

Variant	nsv537097
Chromosome Location	chr4:55042698-55076041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 899 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543175027	chr4:55042748-55042749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563490538	chr4:55042770-55042771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545148177	chr4:55042782-55042783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375534342	chr4:55042865-55042866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368536463	chr4:55042899-55042900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572541218	chr4:55042906-55042907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111927094	chr4:55042925-55042926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80158778	chr4:55042936-55042937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554648976	chr4:55042943-55042944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565650092	chr4:55042976-55042977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528058565	chr4:55043020-55043021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112683617	chr4:55043026-55043027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183489926	chr4:55043052-55043053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530808538	chr4:55043061-55043062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151259582	chr4:55043166-55043167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537729809	chr4:55043169-55043170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75631013	chr4:55043196-55043197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575385165	chr4:55045280-55045281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35125116	chr4:55045335-55045336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137888404	chr4:55045361-55045362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58557055	chr4:55051008-55051009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115217844	chr4:55051011-55051012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182534926	chr4:55051014-55051015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79971845	chr4:55051015-55051016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546656085	chr4:55051041-55051042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566648246	chr4:55051076-55051077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372287558	chr4:55051080-55051081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538603632	chr4:55051101-55051102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558540444	chr4:55051220-55051221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569277995	chr4:55051320-55051321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148461173	chr4:55051343-55051344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568890971	chr4:55051407-55051408	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573715960	chr4:55051416-55051417	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542847773	chr4:55051436-55051437	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536329828	chr4:55051462-55051463	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572990524	chr4:55051494-55051495	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142597522	chr4:55051497-55051498	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564704174	chr4:55051562-55051563	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530573553	chr4:55051598-55051599	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544568119	chr4:55051692-55051693	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186261138	chr4:55051698-55051699	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548338166	chr4:55051721-55051722	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546810637	chr4:55051744-55051745	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375450087	chr4:55051746-55051747	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376390590	chr4:55051801-55051802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566662498	chr4:55051806-55051807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566589665	chr4:55051808-55051809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4311367	chr4:55051835-55051836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552689278	chr4:55051956-55051957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569150819	chr4:55051983-55051984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55042200-55042800	Enhancers	HepG2	liver
2	chr4:55042200-55043000	Enhancers	Fetal Intestine Small	intestine
3	chr4:55042200-55043200	Enhancers	Fetal Intestine Large	intestine
4	chr4:55045200-55045400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:55051000-55051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:55051000-55051400	Enhancers	Fetal Lung	lung
7	chr4:55051000-55052000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:55051200-55051800	Enhancers	HSMM	muscle
9	chr4:55051200-55052400	Enhancers	Fetal Intestine Large	intestine
10	chr4:55051200-55052400	Enhancers	Stomach Mucosa	stomach
11	chr4:55051400-55051800	Active TSS	Fetal Brain Male	brain
12	chr4:55051400-55053200	Weak transcription	Fetal Lung	lung
13	chr4:55051600-55051800	Enhancers	Right Atrium	heart
14	chr4:55051600-55052000	Enhancers	Placenta	Placenta
15	chr4:55051600-55052200	Enhancers	Hela-S3	cervix
16	chr4:55051800-55053200	Weak transcription	Right Atrium	heart
17	chr4:55052000-55052200	Weak transcription	Placenta	Placenta
18	chr4:55052200-55052400	Enhancers	Left Ventricle	heart
19	chr4:55052200-55052600	Enhancers	Placenta	Placenta
20	chr4:55052400-55053400	Weak transcription	Left Ventricle	heart
21	chr4:55052600-55053600	Weak transcription	Placenta	Placenta
22	chr4:55053200-55053400	Enhancers	Right Atrium	heart
23	chr4:55053200-55053600	Enhancers	Fetal Lung	lung
24	chr4:55053200-55054000	Enhancers	Adipose Nuclei	Adipose
25	chr4:55053400-55053600	Weak transcription	Right Atrium	heart
26	chr4:55053400-55054000	Enhancers	Left Ventricle	heart
27	chr4:55053400-55054000	Enhancers	Ovary	ovary
28	chr4:55053600-55054200	Enhancers	Right Atrium	heart
29	chr4:55053800-55054000	Enhancers	Placenta	Placenta
30	chr4:55054200-55063200	Weak transcription	Right Atrium	heart
31	chr4:55055200-55055800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:55055400-55055800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:55055400-55055800	Enhancers	HSMMtube	muscle
34	chr4:55055400-55055800	Enhancers	Osteobl	bone
35	chr4:55060000-55060200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:55060200-55060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:55060400-55061200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:55061200-55064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:55061400-55061600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:55062800-55065200	Enhancers	Fetal Stomach	stomach
41	chr4:55063000-55063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:55063000-55063200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:55063200-55063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:55063200-55063400	Enhancers	NH-A	brain
45	chr4:55063200-55063600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:55063200-55063600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:55063200-55063600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:55063200-55063600	Enhancers	Stomach Smooth Muscle	stomach
49	chr4:55063200-55063600	Enhancers	Osteobl	bone
50	chr4:55063200-55063800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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