Variant report

Variant	nsv980254
Chromosome Location	chr4:120804285-120811932
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	chr4:120798744..120800774-chr4:120802399..120804949,2	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531271969	chr4:120808452-120808453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551084115	chr4:120808556-120808557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570865415	chr4:120808562-120808563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533553921	chr4:120808685-120808686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553397217	chr4:120808714-120808715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557934401	chr4:120808729-120808730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567840893	chr4:120808743-120808744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186034208	chr4:120808770-120808771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540534757	chr4:120808776-120808777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190495818	chr4:120808810-120808811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183264208	chr4:120808852-120808853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545468581	chr4:120808937-120808938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559101488	chr4:120808943-120808944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4432732	chr4:120808966-120808967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541434836	chr4:120809006-120809007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561364944	chr4:120809039-120809040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529161136	chr4:120809047-120809048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573656004	chr4:120809067-120809068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542690025	chr4:120809068-120809069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542926321	chr4:120809096-120809097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574018766	chr4:120809099-120809100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562516189	chr4:120809112-120809113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531406254	chr4:120809128-120809129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551022855	chr4:120809161-120809162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571004891	chr4:120809166-120809167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529630018	chr4:120809198-120809199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370740140	chr4:120809264-120809265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547061784	chr4:120809282-120809283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567270091	chr4:120809293-120809294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112633386	chr4:120809319-120809320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556817563	chr4:120809337-120809338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79931710	chr4:120809348-120809349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72684533	chr4:120809352-120809353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371364072	chr4:120809391-120809392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1587734	chr4:120809455-120809456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73842752	chr4:120809486-120809487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541575607	chr4:120809527-120809528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554634851	chr4:120809550-120809551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189767704	chr4:120809562-120809563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574798412	chr4:120809571-120809572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561071950	chr4:120809572-120809573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542511194	chr4:120809598-120809599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78239694	chr4:120809618-120809619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62319730	chr4:120809679-120809680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377340083	chr4:120809689-120809690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531542956	chr4:120809699-120809700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182689436	chr4:120809744-120809745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564771838	chr4:120809750-120809751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565494303	chr4:120809779-120809780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1587735	chr4:120809786-120809787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120808400-120811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:120811200-120812000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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