Variant report

Variant	nsv968049
Chromosome Location	chr4:90576417-90579864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28673968	chr4:90576890-90576891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142701895	chr4:90576892-90576893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549995913	chr4:90576921-90576922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182047218	chr4:90576928-90576929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538695676	chr4:90576953-90576954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534009821	chr4:90576971-90576972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185604899	chr4:90576986-90576987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565650893	chr4:90577002-90577003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534239881	chr4:90577013-90577014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370695511	chr4:90577026-90577027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574229708	chr4:90577039-90577040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189263238	chr4:90577041-90577042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77169992	chr4:90577044-90577045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544432438	chr4:90577097-90577098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186381783	chr4:90577099-90577100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111644023	chr4:90577150-90577151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552243819	chr4:90577169-90577170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138104136	chr4:90577210-90577211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561280403	chr4:90577226-90577227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34679330	chr4:90577228-90577229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531495271	chr4:90577272-90577273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550008355	chr4:90577306-90577307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571419952	chr4:90577310-90577311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568898549	chr4:90577328-90577329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577875194	chr4:90577377-90577378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547481534	chr4:90577406-90577407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565623779	chr4:90577467-90577468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536273531	chr4:90577479-90577480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554265436	chr4:90577554-90577555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567991236	chr4:90577562-90577563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149506766	chr4:90577563-90577564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563897615	chr4:90577568-90577569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556344438	chr4:90577586-90577587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554756032	chr4:90577645-90577646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577790626	chr4:90577666-90577667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538766574	chr4:90577709-90577710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189934164	chr4:90577719-90577720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181198173	chr4:90577727-90577728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73833508	chr4:90577745-90577746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186032292	chr4:90577746-90577747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568282175	chr4:90577843-90577844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543712080	chr4:90577852-90577853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565091378	chr4:90577879-90577880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368354237	chr4:90577886-90577887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532383064	chr4:90577914-90577915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547593617	chr4:90577969-90577970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559446803	chr4:90578020-90578021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529748916	chr4:90578033-90578034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190443387	chr4:90578109-90578110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576628535	chr4:90578122-90578123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Oral squamous cell carcinoma	17134496	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90576800-90577800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:90577800-90602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:90578800-90579000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:90579000-90581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:90579200-90579600	Enhancers	Dnd41	blood
6	chr4:90579200-90580000	Enhancers	NHEK	skin
7	chr4:90579600-90580000	Enhancers	HMEC	breast
8	chr4:90579600-90580200	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:90579600-90580200	Enhancers	GM12878-XiMat	blood
10	chr4:90579800-90580000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:90579800-90580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:90579800-90580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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