Variant report

Variant	nsv1008497
Chromosome Location	chr4:55115691-55128149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 454 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368859246	chr4:55115693-55115694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541773984	chr4:55115694-55115695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187127202	chr4:55115709-55115710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527306974	chr4:55115716-55115717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533432999	chr4:55115747-55115748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545726636	chr4:55115758-55115759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547755461	chr4:55115762-55115763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571161111	chr4:55115763-55115764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373379611	chr4:55115799-55115800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13435164	chr4:55115828-55115829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6554165	chr4:55115847-55115848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569783168	chr4:55115893-55115894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189963834	chr4:55115894-55115895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548716073	chr4:55115920-55115921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138208417	chr4:55115931-55115932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182499285	chr4:55115966-55115967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115403547	chr4:55115968-55115969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535058550	chr4:55115971-55115972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186192482	chr4:55115994-55115995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73151406	chr4:55116012-55116013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190750972	chr4:55116027-55116028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373069160	chr4:55116041-55116042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79938737	chr4:55116048-55116049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115285668	chr4:55116090-55116091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576177185	chr4:55116116-55116117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182217520	chr4:55116123-55116124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116074631	chr4:55116156-55116157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527278923	chr4:55116177-55116178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541066176	chr4:55116187-55116188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538931062	chr4:55116210-55116211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114864730	chr4:55116242-55116243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142892288	chr4:55116258-55116259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184922384	chr4:55116268-55116269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554402533	chr4:55116280-55116281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569895812	chr4:55116283-55116284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529479797	chr4:55116310-55116311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191586038	chr4:55116409-55116410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566211690	chr4:55116428-55116429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534665788	chr4:55116442-55116443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182987926	chr4:55116457-55116458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145032230	chr4:55116458-55116459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112511824	chr4:55116527-55116528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539766022	chr4:55116546-55116547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116644280	chr4:55116567-55116568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576286151	chr4:55116569-55116570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138590220	chr4:55116580-55116581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188782097	chr4:55116651-55116652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372417497	chr4:55116696-55116697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572108114	chr4:55116729-55116730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555500738	chr4:55116781-55116782	Weak transcription Enhancers	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
Rhabdomyosarcoma	20807811	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55105600-55124800	Weak transcription	Aorta	Aorta
2	chr4:55107200-55118200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:55109400-55117600	Weak transcription	Osteobl	bone
4	chr4:55109400-55119200	Weak transcription	NHLF	lung
5	chr4:55109600-55117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:55109800-55118000	Weak transcription	NHDF-Ad	bronchial
7	chr4:55110000-55116400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:55110000-55116800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:55110000-55120200	Weak transcription	Fetal Lung	lung
10	chr4:55110200-55117800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:55110200-55117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:55110400-55117400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:55110600-55116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:55110800-55118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:55116400-55120200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:55116800-55117200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:55116800-55118000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr4:55117200-55129600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:55117400-55120400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:55117600-55117800	Genic enhancers	Osteobl	bone
21	chr4:55117600-55118400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:55117600-55118600	Weak transcription	Ovary	ovary
23	chr4:55117800-55118400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:55117800-55118600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:55117800-55119400	Enhancers	Osteobl	bone
26	chr4:55117800-55120200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:55118000-55119400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:55118000-55120800	Enhancers	NHDF-Ad	bronchial
29	chr4:55118000-55129800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:55118200-55120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:55118400-55119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:55118400-55121000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:55118600-55118800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:55118600-55119400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:55118600-55120800	Enhancers	Ovary	ovary
36	chr4:55118600-55122400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:55118800-55119200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:55119000-55127200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:55119000-55138600	Weak transcription	Fetal Intestine Small	intestine
40	chr4:55119200-55119400	Enhancers	Right Atrium	heart
41	chr4:55119200-55120400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:55119200-55122200	Enhancers	NHLF	lung
43	chr4:55119400-55119800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:55119400-55120800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:55119400-55121600	Genic enhancers	Osteobl	bone
46	chr4:55119400-55122200	Weak transcription	Right Atrium	heart
47	chr4:55119400-55148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:55119800-55120400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:55120000-55120200	Weak transcription	Fetal Stomach	stomach
50	chr4:55120000-55124400	Enhancers	Placenta	Placenta

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