Variant report

Variant	nsv290569
Chromosome Location	chr4:128657043-128664285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128581030..128583943-chr4:128656313..128658380,2	K562	blood:
2	chr4:128657662..128659612-chr4:128665725..128667631,2	K562	blood:
3	chr4:128651856..128654321-chr4:128662379..128665043,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562326219	chr4:128657043-128657044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200902887	chr4:128657045-128657046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201759042	chr4:128657046-128657047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11098935	chr4:128657047-128657048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370617944	chr4:128657049-128657050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200421728	chr4:128657050-128657051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66487017	chr4:128657051-128657052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs70966054	chr4:128657062-128657063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557982461	chr4:128657102-128657103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371279603	chr4:128657106-128657107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376296758	chr4:128657145-128657146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572888518	chr4:128657197-128657198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540018883	chr4:128657223-128657224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564711095	chr4:128657234-128657235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532191239	chr4:128657263-128657264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550419770	chr4:128657290-128657291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562687017	chr4:128657296-128657297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530924318	chr4:128657323-128657324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377389865	chr4:128657324-128657325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77449482	chr4:128657439-128657440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549142908	chr4:128657628-128657629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370285615	chr4:128657629-128657630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567725534	chr4:128657631-128657632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76350155	chr4:128657715-128657716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72616941	chr4:128657726-128657727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571826769	chr4:128657779-128657780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72616942	chr4:128657802-128657803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192177928	chr4:128657820-128657821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545116657	chr4:128657843-128657844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199565642	chr4:128657888-128657889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6534638	chr4:128657954-128657955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76550875	chr4:128657961-128657962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79716299	chr4:128657969-128657970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572818764	chr4:128657990-128657991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114419746	chr4:128657994-128657995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558240270	chr4:128658036-128658037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112920186	chr4:128658048-128658049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72681834	chr4:128658070-128658071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544041393	chr4:128658083-128658084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72918245	chr4:128658175-128658176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529970876	chr4:128658186-128658187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182926247	chr4:128658213-128658214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368512018	chr4:128658224-128658225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372203727	chr4:128658234-128658235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561089696	chr4:128658260-128658261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530202518	chr4:128658274-128658275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547066801	chr4:128658366-128658367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142822827	chr4:128658425-128658426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79479638	chr4:128658430-128658431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550930338	chr4:128658446-128658447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128644400-128658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:128658200-128658400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:128658200-128659000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:128658200-128659000	Enhancers	K562	blood
5	chr4:128658400-128658600	Enhancers	Fetal Intestine Large	intestine
6	chr4:128658600-128659000	Enhancers	Fetal Lung	lung
7	chr4:128658600-128659000	Enhancers	Fetal Muscle Trunk	muscle
8	chr4:128658800-128659000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:128659000-128661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:128660000-128661600	Weak transcription	Aorta	Aorta
11	chr4:128661600-128662000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:128661600-128662000	ZNF genes & repeats	Aorta	Aorta

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