Variant report

Variant	nsv594835
Chromosome Location	chr4:91910883-91925784
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	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:

Extended variants
information (count: 287 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6849036	chr4:91910883-91910884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6823287	chr4:91910893-91910894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567842224	chr4:91910906-91910907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182443186	chr4:91910920-91910921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187021950	chr4:91910941-91910942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17265766	chr4:91910961-91910962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547904908	chr4:91910983-91910984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566018525	chr4:91910994-91910995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201901205	chr4:91911007-91911008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191050015	chr4:91911042-91911043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572982491	chr4:91911047-91911048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17265801	chr4:91911048-91911049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562144546	chr4:91911059-91911060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575782806	chr4:91911120-91911121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544736444	chr4:91911133-91911134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182294963	chr4:91911176-91911177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533176996	chr4:91911194-91911195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371075816	chr4:91911196-91911197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547269461	chr4:91911207-91911208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560662702	chr4:91911263-91911264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529467152	chr4:91911303-91911304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17017894	chr4:91911306-91911307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569122660	chr4:91911320-91911321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187329290	chr4:91911401-91911402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11727994	chr4:91911417-91911418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570109182	chr4:91911480-91911481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17017898	chr4:91911495-91911496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553214600	chr4:91911506-91911507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573085909	chr4:91911514-91911515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76760756	chr4:91911519-91911520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11728122	chr4:91911602-91911603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17017905	chr4:91911659-91911660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544671453	chr4:91911672-91911673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558331479	chr4:91911695-91911696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577961540	chr4:91911708-91911709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367571852	chr4:91911733-91911734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540302947	chr4:91911740-91911741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17200097	chr4:91911743-91911744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs572165887	chr4:91911809-91911810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529525909	chr4:91911847-91911848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542882270	chr4:91911852-91911853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542921764	chr4:91911877-91911878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562692405	chr4:91911906-91911907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531830300	chr4:91911982-91911983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190184840	chr4:91912032-91912033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570244004	chr4:91912126-91912127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115133383	chr4:91912127-91912128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546254152	chr4:91912134-91912135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566479476	chr4:91912138-91912139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1381298	chr4:91912155-91912156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal adenocarcinoma	18519675	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91910000-91911800	Enhancers	Fetal Lung	lung
2	chr4:91911000-91912000	Enhancers	Fetal Heart	heart
3	chr4:91912000-91915800	Weak transcription	Fetal Heart	heart
4	chr4:91912800-91913400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:91913000-91913400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:91915800-91916200	Enhancers	Fetal Heart	heart
7	chr4:91915800-91916600	Enhancers	Colon Smooth Muscle	Colon
8	chr4:91916000-91916400	Enhancers	Fetal Kidney	kidney
9	chr4:91918200-91918400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:91918200-91918600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:91924400-91924800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:91924600-91924800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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