Variant report

Variant	nsv10520
Chromosome Location	chr4:69852230-69856001
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	BHLHE40	chr4:69852928-69852991	GM12878	blood:	n/a	n/a
2	CHD2	chr4:69852739-69853056	GM12878	blood:	n/a	n/a
3	CUX1	chr4:69852841-69853054	GM12878	blood:	n/a	n/a
4	EBF1	chr4:69852837-69853025	GM12878	blood:	n/a	n/a
5	EP300	chr4:69852824-69853000	GM12878	blood:	n/a	chr4:69852943-69852957
6	EP300	chr4:69852787-69853070	GM12878	blood:	n/a	chr4:69852943-69852957
7	EP300	chr4:69852824-69853009	GM12878	blood:	n/a	chr4:69852943-69852957
8	GATA3	chr4:69852913-69853344	SH-SY5Y	brain:	n/a	n/a
9	MAX	chr4:69853001-69853076	GM12878	blood:	n/a	n/a
10	MXI1	chr4:69852708-69852790	GM12878	blood:	n/a	n/a
11	RCOR1	chr4:69852786-69853035	GM12878	blood:	n/a	n/a
12	RFX5	chr4:69852850-69852951	K562	blood:	n/a	n/a
13	SPI1	chr4:69852800-69853008	GM12891	blood:	n/a	n/a
14	SPI1	chr4:69852727-69853019	GM12878	blood:	n/a	n/a
15	STAT3	chr4:69852819-69852976	GM12878	blood:	n/a	n/a
16	ZNF384	chr4:69852728-69853177	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000249735	TF binding region

Extended variants
information (count: 180 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs554355435	chr4:69852849-69852850	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs555201594	chr4:69852867-69852868	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570386058	chr4:69852877-69852878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574926495	chr4:69852884-69852885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543835183	chr4:69852895-69852896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557518350	chr4:69852929-69852930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577401368	chr4:69852936-69852937	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370440274	chr4:69852941-69852942	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200664814	chr4:69852942-69852943	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs200421951	chr4:69852943-69852944	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199590585	chr4:69852957-69852958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183651618	chr4:69853018-69853019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559306965	chr4:69853039-69853040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189221173	chr4:69853054-69853055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528244647	chr4:69853078-69853079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371797381	chr4:69853082-69853083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562009351	chr4:69853088-69853089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530473452	chr4:69853101-69853102	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550141670	chr4:69853148-69853149	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570077562	chr4:69853161-69853162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112484048	chr4:69853169-69853170	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs111884453	chr4:69853172-69853173	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528248882	chr4:69853191-69853192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535209684	chr4:69853203-69853204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144941880	chr4:69853252-69853253	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551606007	chr4:69853285-69853286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139016683	chr4:69853295-69853296	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs13128177	chr4:69853310-69853311	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181110563	chr4:69853351-69853352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77675922	chr4:69853359-69853360	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545984802	chr4:69853370-69853371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184970319	chr4:69853371-69853372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs572995989	chr4:69853403-69853404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542006876	chr4:69853407-69853408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs561677968	chr4:69853443-69853444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78581483	chr4:69853461-69853462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544069981	chr4:69853494-69853495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563740107	chr4:69853496-69853497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190210132	chr4:69853519-69853520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11728297	chr4:69853538-69853539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs547271312	chr4:69853557-69853558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79504108	chr4:69853574-69853575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528706617	chr4:69853585-69853586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78082932	chr4:69853586-69853587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76826274	chr4:69853607-69853608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573279743	chr4:69853615-69853616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142216850	chr4:69853635-69853636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs7440384	chr4:69853641-69853642	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181654736	chr4:69853659-69853660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs2877423	chr4:69853683-69853684	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69852800-69853400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:69853400-69856000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:69854200-69855200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:69854400-69855400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:69855200-69856000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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