Variant report

Variant	nsv528548
Chromosome Location	chr5:5050830-5060591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:5054207-5054499	HepG2	liver:	n/a	chr5:5054458-5054475 chr5:5054335-5054348 chr5:5054336-5054347
2	CEBPB	chr5:5054323-5054376	H1-hESC	embryonic stem cell:	n/a	chr5:5054335-5054348 chr5:5054336-5054347
3	CEBPB	chr5:5054165-5054411	A549	lung:	n/a	chr5:5054335-5054348 chr5:5054336-5054347
4	CEBPB	chr5:5054219-5054457	K562	blood:	n/a	chr5:5054335-5054348 chr5:5054336-5054347
5	CTCF	chr5:5056647-5056696	ProgFib	skin:	n/a	n/a
6	E2F4	chr5:5055988-5056289	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr5:5056587-5056695	GM12878	blood:	n/a	n/a
8	FOS	chr5:5051043-5051266	MCF10A-Er-Src	breast:	n/a	chr5:5051124-5051132 chr5:5051123-5051133 chr5:5051122-5051134 chr5:5051123-5051133 chr5:5051123-5051133 chr5:5051123-5051133
9	FOS	chr5:5051003-5051306	MCF10A-Er-Src	breast:	n/a	chr5:5051124-5051132 chr5:5051123-5051133 chr5:5051122-5051134 chr5:5051123-5051133 chr5:5051123-5051133 chr5:5051123-5051133
10	FOS	chr5:5051105-5051235	MCF10A-Er-Src	breast:	n/a	chr5:5051124-5051132 chr5:5051123-5051133 chr5:5051122-5051134 chr5:5051123-5051133 chr5:5051123-5051133 chr5:5051123-5051133
11	JUN	chr5:5052065-5052247	K562	blood:	n/a	n/a
12	JUND	chr5:5055519-5055765	HepG2	liver:	n/a	n/a
13	KAP1	chr5:5057319-5057938	HEK293	kidney:	n/a	n/a
14	MAFF	chr5:5055849-5056205	HepG2	liver:	n/a	n/a
15	MAFF	chr5:5055862-5056162	K562	blood:	n/a	n/a
16	MAFK	chr5:5055869-5056186	K562	blood:	n/a	n/a
17	MAFK	chr5:5055843-5056206	HepG2	liver:	n/a	n/a
18	MAFK	chr5:5055848-5056157	Hela-S3	cervix:	n/a	n/a
19	MAFK	chr5:5060396-5060704	HepG2	liver:	n/a	chr5:5060553-5060573 chr5:5060555-5060571 chr5:5060552-5060567
20	MAFK	chr5:5060531-5060619	HepG2	liver:	n/a	chr5:5060553-5060573 chr5:5060555-5060571 chr5:5060552-5060567
21	MAFK	chr5:5055839-5056209	HepG2	liver:	n/a	n/a
22	MAFK	chr5:5055844-5056213	IMR90	lung:	n/a	n/a
23	MAFK	chr5:5055888-5056157	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:5056666-5056704	A549	lung:	n/a	n/a
25	POLR2A	chr5:5056719-5056727	A549	lung:	n/a	n/a
26	POLR2A	chr5:5056651-5056662	A549	lung:	n/a	n/a
27	POLR2A	chr5:5058014-5058069	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr5:5056731-5056733	A549	lung:	n/a	n/a
29	POLR2A	chr5:5055239-5055330	MCF10A-Er-Src	breast:	n/a	n/a
30	RFX5	chr5:5055968-5056066	HepG2	liver:	n/a	n/a
31	RUNX3	chr5:5056413-5056866	GM12878	blood:	n/a	n/a
32	SETDB1	chr5:5052704-5053057	U2OS	brain:	n/a	n/a
33	STAT3	chr5:5050994-5051383	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr5:5051000-5051399	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr5:5051001-5051344	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF7L2	chr5:5057458-5057583	Hela-S3	cervix:	n/a	n/a
37	USF1	chr5:5056847-5056993	K562	blood:	n/a	n/a
38	USF2	chr5:5057004-5057021	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF263	chr5:5057260-5057947	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:5057500-5057550	HCT-116	colon:	n/a
2	chr5:5057500-5057550	GM12891	blood:	n/a
3	chr5:5057500-5057550	T-47D	breast:	n/a
4	chr5:5057500-5057550	RPTEC	kidney:	n/a
5	chr5:5057500-5057550	HMEC	breast:	n/a
6	chr5:5057500-5057550	Hela-S3	cervix:	n/a
7	chr5:5057500-5057550	SK-N-MC	brain:	n/a
8	chr5:5057500-5057550	PANC-1	pancreas:	n/a
9	chr5:5057500-5057550	PFSK-1	brain:	n/a
10	chr5:5057500-5057550	PrEC	prostate:	n/a
11	chr5:5057500-5057550	MCF-7	breast:	n/a
12	chr5:5057500-5057550	IMR90	lung:	fetal
13	chr5:5057500-5057550	NB4	blood:	n/a
14	chr5:5057500-5057550	NHDF-neo	bronchial:	n/a
15	chr5:5057500-5057550	HRPEpiC	eye:	n/a
16	chr5:5057500-5057550	Hepatocyte	liver:	n/a
17	chr5:5057500-5057550	BE2_C	brain:	n/a
18	chr5:5057500-5057550	ECC-1	luminal epithelium:	n/a
19	chr5:5057500-5057550	ovcar-3	ovarian:	n/a
20	chr5:5057500-5057550	K562	blood:	n/a
21	chr5:5057500-5057550	GM19239	blood:	n/a
22	chr5:5057500-5057550	HIPEpiC	eye:	n/a
23	chr5:5057500-5057550	AG09309	skin:	n/a
24	chr5:5057500-5057550	HCF	heart:	n/a
25	chr5:5057500-5057550	LNCaP	prostate:	n/a
26	chr5:5057500-5057550	HNPCEpiC	eye:	n/a
27	chr5:5057500-5057550	GM12878	blood:	n/a
28	chr5:5057500-5057550	HAEpiC	amniotic membrane:	n/a
29	chr5:5057500-5057550	SK-N-SH_RA	brain:	n/a
30	chr5:5057500-5057550	AG04450	lung:	fetal
31	chr5:5057500-5057550	AoSMC	blood vessel:	n/a
32	chr5:5057500-5057550	AG10803	skin:	n/a
33	chr5:5057500-5057550	BJ	skin:	n/a
34	chr5:5057500-5057550	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:5057500-5057550	SAEC	small airway:	n/a
36	chr5:5057500-5057550	HRCEpiC	kidney:	n/a
37	chr5:5057500-5057550	HepG2	liver:	n/a
38	chr5:5057500-5057550	GM06990	blood:	n/a
39	chr5:5057500-5057550	HEK293	kidney:	embryo
40	chr5:5057500-5057550	AG09319	gingival:	n/a
41	chr5:5057500-5057550	SKMC	muscle:	n/a
42	chr5:5057500-5057550	HCM	heart:	n/a
43	chr5:5057500-5057550	AG04449	skin:	fetal
44	chr5:5057500-5057550	U87	brain:	n/a
45	chr5:5057500-5057550	HRE	kidney:	n/a
46	chr5:5057500-5057550	A549	lung:	n/a
47	chr5:5057500-5057550	Caco-2	colon:	n/a
48	chr5:5057500-5057550	NHBE	bronchial:	n/a
49	chr5:5057500-5057550	H1-hESC	embryonic stem cell:	embryo
50	chr5:5057500-5057550	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5050201..5053427-chr5:5054626..5057539,3	K562	blood:
2	chr5:5050201..5053427-chr5:5054626..5057539,3	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS16-1	chr5:5051321-5051328	XLOC_004269
2	lnc-ADAMTS16-1	chr5:5057675-5057941	XLOC_004269
3	lnc-ADAMTS16-1	chr5:5059677-5059794	XLOC_004269
4	lnc-ADAMTS16-1	chr5:5057675-5057941	XLOC_004269
5	lnc-ADAMTS16-1	chr5:5059677-5059794	ENSG00000215231
6	lnc-ADAMTS16-1	chr5:5059677-5059794	XLOC_004269
7	lnc-ADAMTS16-1	chr5:5059677-5059794	XLOC_004269
8	lnc-ADAMTS16-1	chr5:5059677-5059794	XLOC_004269
9	lnc-ADAMTS16-1	chr5:5059677-5059794	NONHSAT100155
10	lnc-ADAMTS16-1	chr5:5051321-5051369	ENSG00000215231
11	lnc-ADAMTS16-1	chr5:5057675-5057941	ENSG00000215231
12	lnc-ADAMTS16-1	chr5:5057675-5057941	XLOC_004269
13	lnc-ADAMTS16-1	chr5:5057844-5057941	XLOC_004269
14	lnc-ADAMTS16-1	chr5:5057675-5057941	ENSG00000215231
15	lnc-ADAMTS16-1	chr5:5057675-5057941	NONHSAT100155
16	lnc-ADAMTS16-1	chr5:5059677-5059794	ENSG00000215231
17	lnc-ADAMTS16-1	chr5:5057675-5057986	XLOC_004269
18	lnc-ADAMTS16-1	chr5:5051321-5051369	XLOC_004269

No data

Variant related genes	Relation type
ENSG00000251426	TF binding region
LINC01020	TF binding region
ENSG00000251426	CpG island
LINC01020	CpG island
UBE4A	miRNA target sites

Extended variants
information (count: 386 )
Associated
traits (count: 94 )

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	rs272190	chr5:5050830-5050831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs272191	chr5:5050876-5050877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568851200	chr5:5050877-5050878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537993179	chr5:5050891-5050892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557434965	chr5:5050954-5050955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150606542	chr5:5050981-5050982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540055594	chr5:5050998-5050999	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs272192	chr5:5051063-5051064	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573628108	chr5:5051112-5051113	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542642597	chr5:5051113-5051114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374883105	chr5:5051160-5051161	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs272193	chr5:5051165-5051166	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531706204	chr5:5051185-5051186	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532989724	chr5:5051196-5051197	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550035527	chr5:5051391-5051392	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375511527	chr5:5051420-5051421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35700881	chr5:5051447-5051448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398064468	chr5:5051450-5051451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201842087	chr5:5051451-5051452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565385733	chr5:5051456-5051457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs272194	chr5:5051464-5051465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548030683	chr5:5051465-5051466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561542156	chr5:5051466-5051467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530457933	chr5:5051497-5051498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548699079	chr5:5051565-5051566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568789233	chr5:5051637-5051638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372056132	chr5:5051649-5051650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537453133	chr5:5051672-5051673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79957611	chr5:5051673-5051674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75028984	chr5:5051696-5051697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397763395	chr5:5051697-5051698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571033350	chr5:5051711-5051712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533717695	chr5:5051724-5051725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553587387	chr5:5051726-5051727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539003677	chr5:5051764-5051765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573845965	chr5:5051783-5051784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16874637	chr5:5051784-5051785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139697560	chr5:5051820-5051821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528981175	chr5:5051852-5051853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189610043	chr5:5051888-5051889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575684906	chr5:5052010-5052011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576343121	chr5:5052041-5052042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544252505	chr5:5052095-5052096	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs143855312	chr5:5052219-5052220	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540224879	chr5:5052293-5052294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75445252	chr5:5052312-5052313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182257167	chr5:5052396-5052397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561513789	chr5:5052397-5052398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530234205	chr5:5052430-5052431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373788396	chr5:5052475-5052476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5050800-5051200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:5051200-5066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5055000-5055200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:5055000-5055200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:5055200-5055600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:5055200-5056600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:5055600-5056000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:5056000-5056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:5056200-5057200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:5056400-5056800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:5056400-5057000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:5056600-5056800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:5056600-5056800	Enhancers	Ovary	ovary
14	chr5:5056800-5057200	Weak transcription	Ovary	ovary
15	chr5:5056800-5062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:5057200-5058000	Active TSS	Ovary	ovary
17	chr5:5057200-5058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:5057400-5057600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:5057400-5057800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr5:5057400-5058000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:5057600-5057800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:5057600-5058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:5057600-5058000	Enhancers	Fetal Kidney	kidney
24	chr5:5057800-5058000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:5058000-5064400	Weak transcription	Fetal Kidney	kidney

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