Variant report

Variant	nsv511260
Chromosome Location	chr4:28421503-28432456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr4:28429229-28429240	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:28423721-28423785	GM13976	blood:	n/a	n/a
3	CTCF	chr4:28427440-28427590	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr4:28428784-28428852	GM20000	blood:	n/a	n/a
5	CTCF	chr4:28427282-28427337	GM13976	blood:	n/a	n/a
6	FOS	chr4:28429867-28430032	HUVEC	blood vessel:	n/a	n/a
7	FOS	chr4:28422982-28423099	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA3	chr4:28428942-28429283	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr4:28428840-28429330	SK-N-SH	brain:	n/a	n/a
10	IRF3	chr4:28427854-28427988	GM12878	blood:	n/a	n/a
11	MAFK	chr4:28430598-28430816	HepG2	liver:	n/a	n/a
12	MAFK	chr4:28430692-28430826	HepG2	liver:	n/a	n/a
13	MYC	chr4:28431431-28431585	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:28429907-28430091	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:28428864-28428874	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:28431238-28431425	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:28431662-28431770	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr4:28431553-28431753	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr4:28430454-28430460	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:28423208..28425984-chr4:28435479..28437215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250064	TF binding region
ENSG00000250064	chromatin interactions

Extended variants
information (count: 386 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6854479	chr4:28421503-28421504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56011935	chr4:28421508-28421509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570582519	chr4:28421516-28421517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182057658	chr4:28421549-28421550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16880634	chr4:28421565-28421566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368590367	chr4:28421590-28421591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535839600	chr4:28421592-28421593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555826574	chr4:28421749-28421750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572762478	chr4:28421772-28421773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541713143	chr4:28421773-28421774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146091021	chr4:28421807-28421808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578090395	chr4:28421834-28421835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543667502	chr4:28421871-28421872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563390361	chr4:28421908-28421909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367566202	chr4:28421936-28421937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372106915	chr4:28421938-28421939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202017168	chr4:28421939-28421940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200198578	chr4:28421940-28421941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187174777	chr4:28421968-28421969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191910042	chr4:28421997-28421998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542590757	chr4:28422048-28422049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549632083	chr4:28422063-28422064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183298638	chr4:28422065-28422066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528096165	chr4:28422112-28422113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369594905	chr4:28422144-28422145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533363889	chr4:28422167-28422168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113506385	chr4:28422180-28422181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530722510	chr4:28422182-28422183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561931781	chr4:28422201-28422202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140046194	chr4:28422207-28422208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190206399	chr4:28422223-28422224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142265388	chr4:28422232-28422233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549516892	chr4:28422251-28422252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566052745	chr4:28422252-28422253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543687691	chr4:28422255-28422256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547129897	chr4:28422311-28422312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566943088	chr4:28422314-28422315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535022871	chr4:28422317-28422318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56357203	chr4:28422370-28422371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578218859	chr4:28422374-28422375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151333706	chr4:28422379-28422380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561775204	chr4:28422381-28422382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182465487	chr4:28422389-28422390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574190332	chr4:28422399-28422400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556073691	chr4:28422411-28422412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186791495	chr4:28422412-28422413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139422034	chr4:28422428-28422429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568904133	chr4:28422458-28422459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572464647	chr4:28422476-28422477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544645218	chr4:28422494-28422495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28421000-28421600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:28421200-28421600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr4:28421600-28426000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:28426000-28426400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr4:28427200-28427800	Enhancers	Fetal Lung	lung
6	chr4:28428800-28429200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:28429200-28445000	Weak transcription	Muscle Satellite Cultured Cells	--

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