Variant report

Variant	nsv513244
Chromosome Location	chr5:79900666-79904808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:79903729-79903973	HepG2	liver:	n/a	n/a
2	ATF2	chr5:79903635-79904100	GM12878	blood:	n/a	n/a
3	BATF	chr5:79903692-79904084	GM12878	blood:	n/a	chr5:79903905-79903916
4	BATF	chr5:79903672-79904079	GM12878	blood:	n/a	chr5:79903905-79903916
5	CEBPB	chr5:79903738-79903757	HepG2	liver:	n/a	n/a
6	ELF1	chr5:79903612-79904011	HepG2	liver:	n/a	n/a
7	ELF1	chr5:79903751-79904073	HepG2	liver:	n/a	n/a
8	ELF1	chr5:79903701-79904024	GM12878	blood:	n/a	n/a
9	FOXA1	chr5:79903562-79904097	HepG2	liver:	n/a	n/a
10	FOXA1	chr5:79903691-79904082	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:79903639-79903958	HepG2	liver:	n/a	n/a
12	FOXA1	chr5:79903673-79904088	HepG2	liver:	n/a	n/a
13	FOXA2	chr5:79903657-79904009	HepG2	liver:	n/a	n/a
14	HNF4A	chr5:79903603-79903973	HepG2	liver:	n/a	chr5:79903815-79903830
15	HNF4A	chr5:79903708-79904061	HepG2	liver:	n/a	chr5:79903815-79903830
16	IRF4	chr5:79903660-79904147	GM12878	blood:	n/a	n/a
17	JUN	chr5:79901910-79902089	K562	blood:	n/a	n/a
18	JUND	chr5:79903732-79903744	HepG2	liver:	n/a	n/a
19	MAFF	chr5:79903627-79903764	HepG2	liver:	n/a	n/a
20	MAFK	chr5:79903482-79903901	HepG2	liver:	n/a	chr5:79903564-79903580
21	MAFK	chr5:79903522-79903957	HepG2	liver:	n/a	chr5:79903564-79903580
22	MAZ	chr5:79903828-79903875	HepG2	liver:	n/a	n/a
23	MEF2A	chr5:79901611-79902119	GM12878	blood:	n/a	n/a
24	MEF2A	chr5:79901748-79902095	GM12878	blood:	n/a	n/a
25	MEF2C	chr5:79901707-79902207	GM12878	blood:	n/a	chr5:79901924-79901939
26	NFYB	chr5:79903633-79904003	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:79904627-79904732	Gliobla	brain:	n/a	n/a
28	POLR2A	chr5:79904791-79904860	Gliobla	brain:	n/a	n/a
29	RAD21	chr5:79903816-79903960	HepG2	liver:	n/a	n/a
30	RFX5	chr5:79903523-79903654	HepG2	liver:	n/a	n/a
31	RUNX3	chr5:79903719-79904095	GM12878	blood:	n/a	n/a
32	RUNX3	chr5:79903707-79904114	GM12878	blood:	n/a	n/a
33	SMC3	chr5:79903737-79903912	HepG2	liver:	n/a	n/a
34	SPI1	chr5:79903729-79904020	GM12891	blood:	n/a	n/a
35	SPI1	chr5:79903752-79903958	GM12878	blood:	n/a	n/a
36	USF2	chr5:79903834-79903932	HepG2	liver:	n/a	n/a
37	ZNF143	chr5:79903888-79904000	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79898740..79900890-chr5:79903364..79906205,2	MCF-7	breast:
2	chr5:79904526..79908421-chr5:79948729..79951551,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHFR-1	chr5:79904442-79904764	XLOC_004905
2	lnc-DHFR-1	chr5:79904496-79904764	NONHSAT102410

No data

Variant related genes	Relation type
DBIP2	TF binding region
ENSG00000113318	chromatin interactions
ENSG00000228716	chromatin interactions
ENSG00000251366	chromatin interactions
NAA25	miRNA target sites

Extended variants
information (count: 136 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376829461	chr5:79900696-79900697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111331601	chr5:79900697-79900698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189783514	chr5:79900715-79900716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533990723	chr5:79900736-79900737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557621975	chr5:79900737-79900738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547589626	chr5:79900757-79900758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570729824	chr5:79900762-79900763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539315996	chr5:79900778-79900779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567155066	chr5:79900782-79900783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556167073	chr5:79900794-79900795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113892166	chr5:79900809-79900810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535202171	chr5:79900843-79900844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553724933	chr5:79900878-79900879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555029764	chr5:79900946-79900947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571985148	chr5:79900957-79900958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375201925	chr5:79900958-79900959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147736472	chr5:79900994-79900995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148720496	chr5:79901016-79901017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553619496	chr5:79901086-79901087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs836790	chr5:79901151-79901152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs186068671	chr5:79901273-79901274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1019750	chr5:79901279-79901280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142249384	chr5:79901420-79901421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112229068	chr5:79901435-79901436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372529562	chr5:79901461-79901462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138617511	chr5:79901479-79901480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527741492	chr5:79901488-79901489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79617856	chr5:79901499-79901500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144428110	chr5:79901500-79901501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66973156	chr5:79901501-79901502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547624293	chr5:79901510-79901511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs836789	chr5:79901512-79901513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539769682	chr5:79901545-79901546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35750284	chr5:79901582-79901583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386403	chr5:79901688-79901689	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569667974	chr5:79901718-79901719	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs577742151	chr5:79901843-79901844	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573494030	chr5:79901947-79901948	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140494099	chr5:79901948-79901949	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs425463	chr5:79901952-79901953	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs190004653	chr5:79901964-79901965	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183243693	chr5:79901982-79901983	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113350269	chr5:79902011-79902012	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554390919	chr5:79902040-79902041	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs117166115	chr5:79902065-79902066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs186451571	chr5:79902115-79902116	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs115515313	chr5:79902118-79902119	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs576780229	chr5:79902140-79902141	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs190529485	chr5:79902168-79902169	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs551323331	chr5:79902201-79902202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79899400-79910200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:79901600-79902200	Enhancers	GM12878-XiMat	blood
3	chr5:79902200-79902600	Weak transcription	GM12878-XiMat	blood
4	chr5:79902400-79916600	Weak transcription	Thymus	Thymus
5	chr5:79902600-79903600	Enhancers	GM12878-XiMat	blood
6	chr5:79902600-79904000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:79902600-79904200	Enhancers	Liver	Liver
8	chr5:79902800-79904800	Enhancers	HepG2	liver
9	chr5:79903000-79903600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:79903400-79903800	Enhancers	Primary B cells from cord blood	blood
11	chr5:79903600-79904000	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:79903600-79904000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:79903600-79905000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:79903600-79905000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr5:79904000-79904800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr5:79904000-79905000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr5:79904000-79905600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:79904000-79914400	Weak transcription	Dnd41	blood
19	chr5:79904800-79925000	Weak transcription	Primary B cells from cord blood	blood

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