Variant report

Variant	nsv882563
Chromosome Location	chr5:104327392-104356452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:104334377-104334640	K562	blood:	n/a	chr5:104334524-104334537
2	EP300	chr5:104334266-104334668	K562	blood:	n/a	chr5:104334377-104334391
3	FOS	chr5:104334422-104334610	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:104334393-104334604	MCF10A-Er-Src	breast:	n/a	n/a
5	HMGN3	chr5:104334384-104334657	K562	blood:	n/a	n/a
6	IRF3	chr5:104328539-104328698	GM12878	blood:	n/a	n/a
7	JUN	chr5:104347113-104347222	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr5:104334501-104334701	K562	blood:	n/a	chr5:104334682-104334691
9	MAFF	chr5:104334331-104334558	K562	blood:	n/a	n/a
10	MAFK	chr5:104334370-104334570	K562	blood:	n/a	n/a
11	MAFK	chr5:104334276-104334556	HepG2	liver:	n/a	n/a
12	MAFK	chr5:104334379-104334511	HepG2	liver:	n/a	n/a
13	MAFK	chr5:104329606-104329831	HepG2	liver:	n/a	n/a
14	MYC	chr5:104331786-104331934	NB4	blood:	n/a	n/a
15	POLR2A	chr5:104350402-104350472	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:104341335-104341411	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:104333284-104333415	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:104334026-104334186	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:104347322-104347522	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:104349643-104349839	MCF10A-Er-Src	breast:	n/a	n/a
21	SPI1	chr5:104338125-104338314	GM12878	blood:	n/a	n/a
22	STAT1	chr5:104341756-104341844	GM12878	blood:	n/a	n/a
23	STAT3	chr5:104327645-104327747	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr5:104352274-104352275	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr5:104332619-104332814	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr5:104329368-104329547	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr5:104346728-104346873	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr5:104335163-104335363	MCF10A-Er-Src	breast:	n/a	n/a
29	TAL1	chr5:104334373-104334659	K562	blood:	n/a	n/a
30	TBL1XR1	chr5:104334465-104334665	K562	blood:	n/a	n/a
31	ZC3H11A	chr5:104353747-104353748	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104345171-104345221	HAEpiC	amniotic membrane:	n/a
2	chr5:104345171-104345221	BE2_C	brain:	n/a
3	chr5:104345171-104345221	Hepatocyte	liver:	n/a
4	chr5:104345171-104345221	SK-N-MC	brain:	n/a
5	chr5:104345171-104345221	NH-A	brain:	n/a
6	chr5:104345171-104345221	AoSMC	blood vessel:	n/a
7	chr5:104345171-104345221	HUVEC	blood vessel:	n/a
8	chr5:104345171-104345221	MCF-7	breast:	n/a
9	chr5:104345171-104345221	Hela-S3	cervix:	n/a
10	chr5:104345171-104345221	Caco-2	colon:	n/a
11	chr5:104345171-104345221	ovcar-3	ovarian:	n/a
12	chr5:104345171-104345221	HRCEpiC	kidney:	n/a
13	chr5:104345171-104345221	GM12892	blood:	n/a
14	chr5:104345171-104345221	PrEC	prostate:	n/a
15	chr5:104345171-104345221	GM19239	blood:	n/a
16	chr5:104345171-104345221	HL-60	blood:	n/a
17	chr5:104345171-104345221	HepG2	liver:	n/a
18	chr5:104345171-104345221	AG09319	gingival:	n/a
19	chr5:104345171-104345221	LNCaP	prostate:	n/a
20	chr5:104345171-104345221	HEK293	kidney:	embryo
21	chr5:104345171-104345221	SKMC	muscle:	n/a
22	chr5:104345171-104345221	HIPEpiC	eye:	n/a
23	chr5:104345171-104345221	GM06990	blood:	n/a
24	chr5:104345171-104345221	RPTEC	kidney:	n/a
25	chr5:104345171-104345221	HMEC	breast:	n/a
26	chr5:104345171-104345221	GM12891	blood:	n/a
27	chr5:104345171-104345221	HCM	heart:	n/a
28	chr5:104345171-104345221	SK-N-SH_RA	brain:	n/a
29	chr5:104345171-104345221	H1-hESC	embryonic stem cell:	embryo
30	chr5:104345171-104345221	PFSK-1	brain:	n/a
31	chr5:104345171-104345221	NT2-D1	testis:	n/a
32	chr5:104345171-104345221	IMR90	lung:	fetal
33	chr5:104345171-104345221	HRPEpiC	eye:	n/a
34	chr5:104345171-104345221	U87	brain:	n/a
35	chr5:104345171-104345221	HEEpiC	esophagus:	n/a
36	chr5:104345171-104345221	AG09309	skin:	n/a
37	chr5:104345171-104345221	NHBE	bronchial:	n/a
38	chr5:104345171-104345221	HCF	heart:	n/a
39	chr5:104345171-104345221	GM12878	blood:	n/a
40	chr5:104345171-104345221	ECC-1	luminal epithelium:	n/a
41	chr5:104345171-104345221	K562	blood:	n/a
42	chr5:104345171-104345221	AG04449	skin:	fetal
43	chr5:104345171-104345221	SK-N-SH	brain:	n/a
44	chr5:104345171-104345221	HRE	kidney:	n/a
45	chr5:104345171-104345221	SAEC	small airway:	n/a
46	chr5:104345171-104345221	Jurkat	blood:	n/a
47	chr5:104345171-104345221	AG04450	lung:	fetal
48	chr5:104345171-104345221	HNPCEpiC	eye:	n/a
49	chr5:104345171-104345221	BJ	skin:	n/a
50	chr5:104345171-104345221	MCF10A-Er-Src	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584
2	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584

No data

Variant related genes	Relation type
ENSG00000253584	TF binding region
ENSG00000253584	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529027939	chr5:104344563-104344564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs144660050	chr5:104344616-104344617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs528159885	chr5:104345171-104345172	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs144882081	chr5:104345172-104345173	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs562782909	chr5:104345204-104345205	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs371559449	chr5:104346738-104346739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552723532	chr5:104346786-104346787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562877915	chr5:104346858-104346859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573585961	chr5:104346860-104346861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4360012	chr5:104347140-104347141	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4277888	chr5:104347167-104347168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146035872	chr5:104347185-104347186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200713162	chr5:104347186-104347187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577599129	chr5:104347205-104347206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546249765	chr5:104347211-104347212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562899655	chr5:104347216-104347217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4461607	chr5:104347357-104347358	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538968373	chr5:104347369-104347370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111798210	chr5:104347378-104347379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4501314	chr5:104347392-104347393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs4260638	chr5:104347428-104347429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4512105	chr5:104347459-104347460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546504869	chr5:104347470-104347471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571456642	chr5:104347497-104347498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532251387	chr5:104347511-104347512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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