Variant report

Variant	nsv966544
Chromosome Location	chr4:131615218-131620141
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	chr12:97890108..97893105-chr4:131617432..131619842,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189185880	chr4:131619206-131619207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545709639	chr4:131619207-131619208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563906920	chr4:131619208-131619209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181549926	chr4:131619216-131619217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532995899	chr4:131619224-131619225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79700391	chr4:131619234-131619235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144927231	chr4:131619236-131619237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561235010	chr4:131619248-131619249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs546367809	chr4:131619269-131619270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565882907	chr4:131619273-131619274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs114945846	chr4:131619289-131619290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112896808	chr4:131619319-131619320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs199890833	chr4:131619327-131619328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78364630	chr4:131619328-131619329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369808245	chr4:131619329-131619330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115937571	chr4:131619421-131619422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373639996	chr4:131619423-131619424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149056275	chr4:131619431-131619432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146047410	chr4:131619440-131619441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138802711	chr4:131619525-131619526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186608228	chr4:131619571-131619572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568739270	chr4:131619597-131619598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536077904	chr4:131619620-131619621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs28407237	chr4:131619638-131619639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs28623474	chr4:131619643-131619644	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558626363	chr4:131619661-131619662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142925456	chr4:131619734-131619735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79681236	chr4:131619759-131619760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192397440	chr4:131619947-131619948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557711752	chr4:131619979-131619980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs28477072	chr4:131619999-131620000	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542861087	chr4:131620000-131620001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs57518881	chr4:131620049-131620050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181934644	chr4:131620065-131620066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10021106	chr4:131620069-131620070	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528519824	chr4:131620100-131620101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376564820	chr4:131620103-131620104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540316732	chr4:131620121-131620122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs114274604	chr4:131620124-131620125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186135238	chr4:131620132-131620133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550532345	chr4:131620141-131620142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Hepatocellular carcinoma	16750200	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
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131619200-131623200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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