Variant report

Variant	nsv521350
Chromosome Location	chr4:54621715-54629262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54619811..54622044-chr4:54627656..54629607,2	K562	blood:
2	chr4:54619811..54622044-chr4:54627656..54629607,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59481386	chr4:54625401-54625402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62297702	chr4:54625406-54625407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191621871	chr4:54625434-54625435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371768917	chr4:54625454-54625455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567381947	chr4:54625465-54625466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112939382	chr4:54625496-54625497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549208807	chr4:54625533-54625534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115160232	chr4:54625565-54625566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148613491	chr4:54625603-54625604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565483873	chr4:54625649-54625650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10022751	chr4:54625691-54625692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142081570	chr4:54625705-54625706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557103974	chr4:54625708-54625709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573723017	chr4:54625764-54625765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371324637	chr4:54625830-54625831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557563536	chr4:54625881-54625882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559928707	chr4:54625909-54625910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573319196	chr4:54625910-54625911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55705508	chr4:54625974-54625975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565191098	chr4:54625982-54625983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56061807	chr4:54625987-54625988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550600106	chr4:54626000-54626001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151142255	chr4:54626010-54626011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555644562	chr4:54626016-54626017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185470376	chr4:54626042-54626043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78856444	chr4:54626054-54626055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60086744	chr4:54626068-54626069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67780867	chr4:54626114-54626115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542259227	chr4:54626123-54626124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528246085	chr4:54626177-54626178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141256962	chr4:54626226-54626227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6842780	chr4:54626228-54626229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs562605596	chr4:54626229-54626230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376065168	chr4:54626292-54626293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557044566	chr4:54626300-54626301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531653510	chr4:54626333-54626334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370044195	chr4:54626360-54626361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76970740	chr4:54626409-54626410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12506149	chr4:54626413-54626414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193262089	chr4:54626435-54626436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545156818	chr4:54626449-54626450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558717423	chr4:54626459-54626460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575578587	chr4:54626467-54626468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113475277	chr4:54626579-54626580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112464915	chr4:54626604-54626605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141704325	chr4:54626661-54626662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540743406	chr4:54626692-54626693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560340145	chr4:54626731-54626732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375775592	chr4:54626754-54626755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185413983	chr4:54626765-54626766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Glioblastoma multiforme	21525872	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54625400-54626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:54626000-54629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54627200-54629400	Weak transcription	NHLF	lung
4	chr4:54629000-54630400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:54629200-54630400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:54629200-54630400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:54629200-54631200	Enhancers	NHDF-Ad	bronchial
8	chr4:54629200-54631800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--

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